Linked Data
dbSNP Id:
rs180177309
ExAC:
9:37426649 GAAGT / G
gnomAD v2:
9-37426649-GAAGT-G
gnomAD v3:
9-37426652-GAAGT-G
gnomAD v4:
9-37426652-GAAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37426657_37426660del , CM000671.2:g.37426657_37426660del | GRCh38 |
| NC_000009.11:g.37426654_37426657del , CM000671.1:g.37426654_37426657del | GRCh37 |
| NC_000009.10:g.37416654_37416657del | NCBI36 |
| NG_008135.1:g.8948_8951del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.404+3_404+6del | ||
| ENST00000318158.10:c.404+3_404+6del | ||
| ENST00000377824.8:n.441+3_441+6del | ||
| ENST00000460882.5:n.431+3_431+6del | ||
| ENST00000491488.5:n.110-1827_110-1824del | ||
| ENST00000493368.5:n.461+3_461+6del | ||
| ENST00000607784.1:c.404+3_404+6del | ||
| NM_012203.1:c.404+3_404+6del | ||
| XM_005251631.1:c.84-1827_84-1824del | XP_005251688.1:n.84-1827_84-1824del | |
| XM_011518073.1:c.-359+3_-359+6del | ||
| XR_929374.1:n.489+3_489+6del | ||
| XM_017015320.2:c.404+3_404+6del | ||
| XM_017015321.2:c.404+3_404+6del | ||
| XM_017015323.2:c.-359+3_-359+6del | ||
| XM_024447716.1:c.677+3_677+6del | ||
| XM_024447717.1:c.677+3_677+6del | ||
| XR_002956828.1:n.692+3_692+6del | ||
| XR_002956829.1:n.692+3_692+6del | ||
| XR_002956830.1:n.463+3_463+6del | ||
| XR_002956831.1:n.139-1827_139-1824del | ||
| XR_002956832.1:n.463+3_463+6del | ||
| NM_012203.2:c.404+3_404+6del |