gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274563_80274564del , CM000672.2:g.80274563_80274564del | GRCh38 |
| NC_000010.10:g.82034319_82034320del , CM000672.1:g.82034319_82034320del | GRCh37 |
| NC_000010.9:g.82024299_82024300del | NCBI36 |
| NG_008083.1:g.20117_20118del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1043_1044del MANE Select | ENSP00000361287.3:p.Val348GlyfsTer3 | |
| ENST00000372213.7:c.1043_1044del | ENSP00000361287.3:p.Val348GlyfsTer3 | |
| ENST00000480845.1:n.275_276del | ||
| ENST00000485270.5:n.555_556del | ||
| NM_000429.2:c.1043_1044del | NP_000420.1:p.Val348GlyfsTer3 | |
| XM_005269842.3:c.1043_1044del | XP_005269899.1:p.Val348GlyfsTer3 | |
| XM_005269843.3:c.920_921del | XP_005269900.1:p.Val307GlyfsTer3 | |
| NM_000429.3:c.1043_1044del MANE Select | NP_000420.1:p.Val348GlyfsTer3 |