gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24206886_24206890del , CM000668.2:g.24206886_24206890del | GRCh38 |
| NC_000006.11:g.24207114_24207118del , CM000668.1:g.24207114_24207118del | GRCh37 |
| NC_000006.10:g.24315093_24315097del | NCBI36 |
| NG_012829.1:g.156164_156168del | |
| NG_012829.2:g.181404_181408del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.923-1787_923-1783del MANE Select | ENSP00000367715.3:n.923-1787_923-1783del | |
| ENST00000378454.7:c.923-1787_923-1783del | ENSP00000367715.3:n.923-1787_923-1783del | |
| NM_001195610.1:c.923-1787_923-1783del | NP_001182539.1:n.923-1787_923-1783del | |
| NM_016356.4:c.923-1787_923-1783del | NP_057440.2:n.923-1787_923-1783del | |
| NM_016356.5:c.923-1787_923-1783del MANE Select | NP_057440.2:n.923-1787_923-1783del | |
| NM_001195610.2:c.923-1787_923-1783del | NP_001182539.1:n.923-1787_923-1783del |