Linked Data
dbSNP Id:
rs768653391
ExAC:
1:15772292 CT / C
gnomAD v2:
1-15772292-CT-C
gnomAD v4:
1-15445797-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445798del , CM000663.2:g.15445798del | GRCh38 |
| NC_000001.10:g.15772293del , CM000663.1:g.15772293del | GRCh37 |
| NC_000001.9:g.15644880del | NCBI36 |
| NG_009253.1:g.12356del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+49del MANE Select | ENSP00000365116.4:n.792+49del | |
| ENST00000375943.6:c.*246+49del | ENSP00000365110.2:n.*246+49del | |
| ENST00000375949.4:c.792+49del | ENSP00000365116.4:n.792+49del | |
| ENST00000483406.1:n.556+49del | ||
| NM_007272.2:c.792+49del | NP_009203.2:n.792+49del | |
| XM_011540550.1:c.646+49del | XP_011538852.1:n.646+49del | |
| NM_007272.3:c.792+49del MANE Select | NP_009203.2:n.792+49del |