gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367167_38367174del , CM000685.2:g.38367167_38367174del | GRCh38 |
| NC_000023.10:g.38226420_38226427del , CM000685.1:g.38226420_38226427del | GRCh37 |
| NC_000023.9:g.38111364_38111371del | NCBI36 |
| NG_008471.1:g.19685_19692del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.78-124_78-117del MANE Select | ENSP00000039007.4:n.78-124_78-117del | |
| ENST00000643344.1:c.78-124_78-117del | ENSP00000496606.1:n.78-124_78-117del | |
| ENST00000039007.4:c.78-124_78-117del | ENSP00000039007.4:n.78-124_78-117del | |
| ENST00000465127.1:c.172-298954_172-298947del | ENSP00000417050.1:n.172-298954_172-298947del | |
| ENST00000488812.1:n.170-124_170-117del | ||
| NM_000531.5:c.78-124_78-117del | NP_000522.3:n.78-124_78-117del | |
| XM_017029556.1:c.78-124_78-117del | XP_016885045.1:n.78-124_78-117del | |
| NM_000531.6:c.78-124_78-117del MANE Select | NP_000522.3:n.78-124_78-117del |