Linked Data
ClinVar Variation Id:
198054
ClinVar RCV Id:
RCV000179269
dbSNP Id:
rs797044769
MyVariant Identifiers:
chrX:g.100653477_100653478delinsGATT (hg19)
chrX:g.101398489_101398490delinsGATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398489_101398490delinsGATT , CM000685.2:g.101398489_101398490delinsGATT | GRCh38 |
| NC_000023.10:g.100653477_100653478delinsGATT , CM000685.1:g.100653477_100653478delinsGATT | GRCh37 |
| NC_000023.9:g.100540133_100540134delinsGATT | NCBI36 |
| NG_007119.1:g.14474_14475delinsAATC , LRG_672:g.14474_14475delinsAATC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486121.7:c.*325_*326delinsAATC (GLA) | ENSP00000501124.2:n.*325_*326delinsAATC | |
| ENST00000674127.2:c.*382_*383delinsAATC (GLA) | ENSP00000501044.2:n.*382_*383delinsAATC | |
| ENST00000710365.1:c.954_955delinsAATC (GLA) | ENSP00000518234.1:p.Leu319IlefsTer24 | |
| ENST00000218516.4:c.879_880delinsAATC (GLA) MANE Select | ENSP00000218516.4:p.Leu294IlefsTer24 | |
| ENST00000466414.2:n.1015_1016delinsAATC (GLA) | ||
| ENST00000468823.2:n.2031_2032delinsAATC (GLA) | ||
| ENST00000479445.2:n.1493_1494delinsAATC (GLA) | ||
| ENST00000480513.6:c.*187_*188delinsAATC (GLA) | ENSP00000497055.1:n.*187_*188delinsAATC | |
| ENST00000486121.6:c.924_925delinsAATC (GLA) | ||
| ENST00000649178.1:c.1002_1003delinsAATC (GLA) | ENSP00000498186.1:p.Leu335IlefsTer24 | |
| ENST00000674127.1:c.979_980delinsAATC (GLA) | ENSP00000501044.1:n.979_980delinsAATC | |
| ENST00000674142.1:n.1183_1184delinsAATC (GLA) | ||
| ENST00000674634.2:c.879_880delinsAATC (GLA) | ENSP00000502629.2:p.Leu294IlefsTer24 | |
| ENST00000675592.1:c.801+295_801+296delinsAATC (GLA) | ENSP00000502239.1:n.801+295_801+296delins... | |
| ENST00000675799.1:c.*404_*405delinsAATC (GLA) | ENSP00000502661.1:n.*404_*405delinsAATC | |
| ENST00000675968.1:n.3750_3751delinsAATC (GLA) | ||
| ENST00000676156.1:c.843_844delinsAATC (GLA) | ENSP00000501730.1:p.Leu282IlefsTer24 | |
| ENST00000676372.1:c.945_946delinsAATC (GLA) | ENSP00000502805.1:n.945_946delinsAATC | |
| ENST00000218516.3:c.879_880delinsAATC (GLA) | ENSP00000218516.3:p.Leu294IlefsTer24 | |
| ENST00000409170.3:c.300+3032_300+3033delinsGATT (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+3032_300+3033deli... | |
| ENST00000409338.5:c.177+6667_177+6668delinsGATT (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6667_177+6668deli... | |
| ENST00000466414.1:n.205_206delinsAATC (GLA) | ||
| ENST00000493905.6:c.*267_*268delinsAATC (GLA) | ENSP00000476935.1:n.*267_*268delinsAATC | |
| NM_000169.2:c.879_880delinsAATC , LRG_672t1:c.879_880delinsAATC (GLA) | NP_000160.1:p.Leu294IlefsTer24 | |
| NM_001199973.1:c.408+3032_408+3033delinsGATT (RPL36A-HNRNPH2) | NP_001186902.1:n.408+3032_408+3033delinsG... | |
| NM_001199974.1:c.285+6667_285+6668delinsGATT (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6667_285+6668delinsG... | |
| XR_938397.1:n.964_965delinsAATC (GLA) | ||
| XR_938397.2:n.985_986delinsAATC (GLA) | ||
| NM_001199973.2:c.300+3032_300+3033delinsGATT (RPL36A-HNRNPH2) | NP_001186902.2:n.300+3032_300+3033delinsG... | |
| NM_001199974.2:c.177+6667_177+6668delinsGATT (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6667_177+6668delinsG... | |
| NM_000169.3:c.879_880delinsAATC (GLA) MANE Select | NP_000160.1:p.Leu294IlefsTer24 | |
| NR_164783.1:n.958_959delinsAATC (GLA) |