Linked Data
ClinVar Variation Id:
10765
ClinVar RCV Id:
RCV000011512
dbSNP Id:
rs1057519609
PubMed:
PMID:8834244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101397951_101397953del , CM000685.2:g.101397951_101397953del | GRCh38 |
| NC_000023.10:g.100652939_100652941del , CM000685.1:g.100652939_100652941del | GRCh37 |
| NC_000023.9:g.100539595_100539597del | NCBI36 |
| NG_007119.1:g.15012_15014del , LRG_672:g.15012_15014del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486121.7:c.*593_*595del (GLA) | ENSP00000501124.2:n.*593_*595del | |
| ENST00000674127.2:c.*650_*652del (GLA) | ENSP00000501044.2:n.*650_*652del | |
| ENST00000710365.1:c.1222_1224del (GLA) | ENSP00000518234.1:p.Phe408del | |
| ENST00000218516.4:c.1147_1149del (GLA) MANE Select | ENSP00000218516.4:p.Phe383del | |
| ENST00000466414.2:n.1283_1285del (GLA) | ||
| ENST00000468823.2:n.2569_2571del (GLA) | ||
| ENST00000479445.2:n.1761_1763del (GLA) | ||
| ENST00000480513.6:c.*455_*457del (GLA) | ENSP00000497055.1:n.*455_*457del | |
| ENST00000486121.6:c.1192_1194del (GLA) | ||
| ENST00000649178.1:c.1270_1272del (GLA) | ENSP00000498186.1:p.Phe424del | |
| ENST00000674127.1:c.1247_1249del (GLA) | ENSP00000501044.1:n.1247_1249del | |
| ENST00000674142.1:n.1421+30_1421+32del (GLA) | ||
| ENST00000675592.1:c.949_951del (GLA) | ENSP00000502239.1:p.Phe317del | |
| ENST00000675799.1:c.*672_*674del (GLA) | ENSP00000502661.1:n.*672_*674del | |
| ENST00000675968.1:n.4018_4020del (GLA) | ||
| ENST00000676156.1:c.1111_1113del (GLA) | ENSP00000501730.1:p.Phe371del | |
| ENST00000676372.1:c.1213_1215del (GLA) | ENSP00000502805.1:n.1213_1215del | |
| ENST00000218516.3:c.1147_1149del (GLA) | ENSP00000218516.3:p.Phe383del | |
| ENST00000409170.3:c.300+2494_300+2496del (RPL36A-HNRNPH2) | ENSP00000386655.4:n.300+2494_300+2496del | |
| ENST00000409338.5:c.177+6129_177+6131del (RPL36A-HNRNPH2) | ENSP00000386974.2:n.177+6129_177+6131del | |
| ENST00000466414.1:n.473_475del (GLA) | ||
| ENST00000493905.6:c.*535_*537del (GLA) | ENSP00000476935.1:n.*535_*537del | |
| NM_000169.2:c.1147_1149del , LRG_672t1:c.1147_1149del (GLA) | NP_000160.1:p.Phe383del | |
| NM_001199973.1:c.408+2494_408+2496del (RPL36A-HNRNPH2) | NP_001186902.1:n.408+2494_408+2496del | |
| NM_001199974.1:c.285+6129_285+6131del (RPL36A-HNRNPH2) | NP_001186903.1:n.285+6129_285+6131del | |
| XR_938397.1:n.1232_1234del (GLA) | ||
| XR_938397.2:n.1253_1255del (GLA) | ||
| NM_001199973.2:c.300+2494_300+2496del (RPL36A-HNRNPH2) | NP_001186902.2:n.300+2494_300+2496del | |
| NM_001199974.2:c.177+6129_177+6131del (RPL36A-HNRNPH2) | NP_001186903.2:n.177+6129_177+6131del | |
| NM_000169.3:c.1147_1149del (GLA) MANE Select | NP_000160.1:p.Phe383del | |
| NR_164783.1:n.1226_1228del (GLA) |