Linked Data
dbSNP Id:
rs1316980209
gnomAD v3:
X-101398292-GA-G
gnomAD v4:
X-101398292-GA-G
MyVariant Identifiers:
chrX:g.101398293del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398299del , CM000685.2:g.101398299del | GRCh38 |
| NC_000023.10:g.100653287del , CM000685.1:g.100653287del | GRCh37 |
| NC_000023.9:g.100539943del | NCBI36 |
| NG_007119.1:g.14671del , LRG_672:g.14671del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.*445+77del (GLA) | ENSP00000501124.2:n.*445+77del | |
| ENST00000674127.2:c.*502+77del (GLA) | ENSP00000501044.2:n.*502+77del | |
| ENST00000710365.1:c.1074+77del (GLA) | ENSP00000518234.1:n.1074+77del | |
| ENST00000218516.4:c.999+77del (GLA) MANE Select | ENSP00000218516.4:n.999+77del | |
| ENST00000466414.2:n.1135+77del (GLA) | ||
| ENST00000468823.2:n.2228del (GLA) | ||
| ENST00000479445.2:n.1613+77del (GLA) | ||
| ENST00000480513.6:c.*307+77del (GLA) | ENSP00000497055.1:n.*307+77del | |
| ENST00000486121.6:c.1044+77del (GLA) | ||
| ENST00000649178.1:c.1122+77del (GLA) | ENSP00000498186.1:n.1122+77del | |
| ENST00000674127.1:c.1099+77del (GLA) | ENSP00000501044.1:n.1099+77del | |
| ENST00000674142.1:n.1303+77del (GLA) | ||
| ENST00000674634.2:c.1076del (GLA) | ENSP00000502629.2:p.Phe359SerfsTer? | |
| ENST00000675592.1:c.802-194del (GLA) | ENSP00000502239.1:n.802-194del | |
| ENST00000675799.1:c.*524+77del (GLA) | ENSP00000502661.1:n.*524+77del | |
| ENST00000675968.1:n.3870+77del (GLA) | ||
| ENST00000676156.1:c.963+77del (GLA) | ENSP00000501730.1:n.963+77del | |
| ENST00000676372.1:c.1065+77del (GLA) | ENSP00000502805.1:n.1065+77del | |
| ENST00000218516.3:c.999+77del (GLA) | ENSP00000218516.3:n.999+77del | |
| ENST00000409170.3:c.300+2842del (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2842del | |
| ENST00000409338.5:c.177+6477del (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6477del | |
| ENST00000466414.1:n.325+77del (GLA) | ||
| ENST00000493905.6:c.*387+77del (GLA) | ENSP00000476935.1:n.*387+77del | |
| NM_000169.2:c.999+77del , LRG_672t1:c.999+77del (GLA) | NP_000160.1:n.999+77del | |
| NM_001199973.1:c.408+2842del (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2842del | |
| NM_001199974.1:c.285+6477del (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6477del | |
| XR_938397.1:n.1084+77del (GLA) | ||
| XR_938397.2:n.1105+77del (GLA) | ||
| NM_001199973.2:c.300+2842del (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2842del | |
| NM_001199974.2:c.177+6477del (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6477del | |
| NM_000169.3:c.999+77del (GLA) MANE Select | NP_000160.1:n.999+77del | |
| NR_164783.1:n.1078+77del (GLA) |