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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 typeNumber of coding sequences
Identical92,600
Mis-sense variant26,566
In-frame deletion956
In-frame insertion605
Frameshift variant2158
Start lost169
Stop gained416
Stop lost58
Truncated564
Unmapped138
Total124,230