Skip to main content

Table 6 Comparison of protein-coding sequences between Ash1 and GRCh38. Here, “insertion” means an insertion in Ash1 relative to GRCh38, and other terms are similarly referring to changes in Ash1 compared to GRCh38. “Truncated” indicates the transcript was only partially mapped. “Stop gained” refers to premature stop codons caused by a SNP

From: Assembly and annotation of an Ashkenazi human reference genome

Variant type

Number of coding sequences

Identical

92,600

Mis-sense variant

26,566

In-frame deletion

956

In-frame insertion

605

Frameshift variant

2158

Start lost

169

Stop gained

416

Stop lost

58

Truncated

564

Unmapped

138

Total

124,230