Linked Data
dbSNP Id:
rs782380995
ExAC:
X:100658769 AAT / A
gnomAD v2:
X-100658769-AAT-A
gnomAD v4:
X-101403781-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101403782_101403783del , CM000685.2:g.101403782_101403783del | GRCh38 |
| NC_000023.10:g.100658770_100658771del , CM000685.1:g.100658770_100658771del | GRCh37 |
| NC_000023.9:g.100545426_100545427del | NCBI36 |
| NG_007119.1:g.9181_9182del , LRG_672:g.9181_9182del | |
| NG_016327.1:g.580_581del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.369+28_369+29del (GLA) | ENSP00000501124.2:n.369+28_369+29del | |
| ENST00000674127.2:c.369+28_369+29del (GLA) | ENSP00000501044.2:n.369+28_369+29del | |
| ENST00000710365.1:c.444+28_444+29del (GLA) | ENSP00000518234.1:n.444+28_444+29del | |
| ENST00000218516.4:c.369+28_369+29del (GLA) MANE Select | ENSP00000218516.4:n.369+28_369+29del | |
| ENST00000466414.2:n.288+28_288+29del (GLA) | ||
| ENST00000468823.2:n.430+28_430+29del (GLA) | ||
| ENST00000479445.2:n.367+28_367+29del (GLA) | ||
| ENST00000480513.6:c.369+28_369+29del (GLA) | ENSP00000497055.1:n.369+28_369+29del | |
| ENST00000486121.6:c.299+28_299+29del (GLA) | ||
| ENST00000649178.1:c.492+28_492+29del (GLA) | ENSP00000498186.1:n.492+28_492+29del | |
| ENST00000674127.1:c.297+28_297+29del (GLA) | ENSP00000501044.1:n.297+28_297+29del | |
| ENST00000674142.1:n.456+28_456+29del (GLA) | ||
| ENST00000674634.2:c.369+28_369+29del (GLA) | ENSP00000502629.2:n.369+28_369+29del | |
| ENST00000675592.1:c.369+28_369+29del (GLA) | ENSP00000502239.1:n.369+28_369+29del | |
| ENST00000675799.1:c.369+28_369+29del (GLA) | ENSP00000502661.1:n.369+28_369+29del | |
| ENST00000675968.1:n.430+28_430+29del (GLA) | ||
| ENST00000676156.1:c.369+28_369+29del (GLA) | ENSP00000501730.1:n.369+28_369+29del | |
| ENST00000676372.1:c.369+28_369+29del (GLA) | ENSP00000502805.1:n.369+28_369+29del | |
| ENST00000218516.3:c.369+28_369+29del (GLA) | ENSP00000218516.3:n.369+28_369+29del | |
| ENST00000409170.3:c.301-8154_301-8153del (RPL36A-HNRNPH2) | ENSP00000386655.4:n.301-8154_301-8153del | |
| ENST00000409338.5:c.178-8154_178-8153del (RPL36A-HNRNPH2) | ENSP00000386974.2:n.178-8154_178-8153del | |
| ENST00000479445.1:n.353+28_353+29del (GLA) | ||
| ENST00000480513.5:n.299+28_299+29del (GLA) | ||
| ENST00000486121.5:n.299+28_299+29del (GLA) | ||
| ENST00000493905.6:c.369+28_369+29del (GLA) | ENSP00000476935.1:n.369+28_369+29del | |
| NM_000169.2:c.369+28_369+29del , LRG_672t1:c.369+28_369+29del (GLA) | NP_000160.1:n.369+28_369+29del | |
| NM_001199973.1:c.409-8154_409-8153del (RPL36A-HNRNPH2) | NP_001186902.1:n.409-8154_409-8153del | |
| NM_001199974.1:c.286-8154_286-8153del (RPL36A-HNRNPH2) | NP_001186903.1:n.286-8154_286-8153del | |
| XR_938397.1:n.397+28_397+29del (GLA) | ||
| XR_938397.2:n.418+28_418+29del (GLA) | ||
| NM_001199973.2:c.301-8154_301-8153del (RPL36A-HNRNPH2) | NP_001186902.2:n.301-8154_301-8153del | |
| NM_001199974.2:c.178-8154_178-8153del (RPL36A-HNRNPH2) | NP_001186903.2:n.178-8154_178-8153del | |
| NM_000169.3:c.369+28_369+29del (GLA) MANE Select | NP_000160.1:n.369+28_369+29del | |
| NR_164783.1:n.391+28_391+29del (GLA) |