Linked Data
ClinVar Variation Id:
92538
dbSNP Id:
rs398123198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101398070_101398071del , CM000685.2:g.101398070_101398071del | GRCh38 |
| NC_000023.10:g.100653058_100653059del , CM000685.1:g.100653058_100653059del | GRCh37 |
| NC_000023.9:g.100539714_100539715del | NCBI36 |
| NG_007119.1:g.14898_14899del , LRG_672:g.14898_14899del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486121.7:c.*479_*480del (GLA) | ENSP00000501124.2:n.*479_*480del | |
| ENST00000674127.2:c.*536_*537del (GLA) | ENSP00000501044.2:n.*536_*537del | |
| ENST00000710365.1:c.1108_1109del (GLA) | ENSP00000518234.1:p.Ser370ArgfsTer29 | |
| ENST00000218516.4:c.1033_1034del (GLA) MANE Select | ENSP00000218516.4:p.Ser345ArgfsTer29 | |
| ENST00000466414.2:n.1169_1170del (GLA) | ||
| ENST00000468823.2:n.2455_2456del (GLA) | ||
| ENST00000479445.2:n.1647_1648del (GLA) | ||
| ENST00000480513.6:c.*341_*342del (GLA) | ENSP00000497055.1:n.*341_*342del | |
| ENST00000486121.6:c.1078_1079del (GLA) | ||
| ENST00000649178.1:c.1156_1157del (GLA) | ENSP00000498186.1:p.Ser386ArgfsTer29 | |
| ENST00000674127.1:c.1133_1134del (GLA) | ENSP00000501044.1:n.1133_1134del | |
| ENST00000674142.1:n.1337_1338del (GLA) | ||
| ENST00000675592.1:c.835_836del (GLA) | ENSP00000502239.1:p.Ser279ArgfsTer29 | |
| ENST00000675799.1:c.*558_*559del (GLA) | ENSP00000502661.1:n.*558_*559del | |
| ENST00000675968.1:n.3904_3905del (GLA) | ||
| ENST00000676156.1:c.997_998del (GLA) | ENSP00000501730.1:p.Ser333ArgfsTer29 | |
| ENST00000676372.1:c.1099_1100del (GLA) | ENSP00000502805.1:n.1099_1100del | |
| ENST00000218516.3:c.1033_1034del (GLA) | ENSP00000218516.3:p.Ser345ArgfsTer29 | |
| ENST00000409170.3:c.300+2613_300+2614del (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2613_300+2614del | |
| ENST00000409338.5:c.177+6248_177+6249del (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6248_177+6249del | |
| ENST00000466414.1:n.359_360del (GLA) | ||
| ENST00000493905.6:c.*421_*422del (GLA) | ENSP00000476935.1:n.*421_*422del | |
| NM_000169.2:c.1033_1034del , LRG_672t1:c.1033_1034del (GLA) | NP_000160.1:p.Ser345ArgfsTer29 | |
| NM_001199973.1:c.408+2613_408+2614del (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2613_408+2614del | |
| NM_001199974.1:c.285+6248_285+6249del (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6248_285+6249del | |
| XR_938397.1:n.1118_1119del (GLA) | ||
| XR_938397.2:n.1139_1140del (GLA) | ||
| NM_001199973.2:c.300+2613_300+2614del (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2613_300+2614del | |
| NM_001199974.2:c.177+6248_177+6249del (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6248_177+6249del | |
| NM_000169.3:c.1033_1034del (GLA) MANE Select | NP_000160.1:p.Ser345ArgfsTer29 | |
| NR_164783.1:n.1112_1113del (GLA) |