Linked Data
ClinVar Variation Id:
1257
ClinVar RCV Id:
RCV000001319
dbSNP Id:
rs137853952
MyVariant Identifiers:
chr1:g.43218315_43218316delinsG (hg19)
chr1:g.42752644_42752645delinsG (hg38)
PubMed:
PMID:19088120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42752644_42752645delinsG , CM000663.2:g.42752644_42752645delinsG | GRCh38 |
| NC_000001.10:g.43218315_43218316delinsG , CM000663.1:g.43218315_43218316delinsG | GRCh37 |
| NC_000001.9:g.42990902_42990903delinsG | NCBI36 |
| NG_008123.1:g.19440_19441delinsC , LRG_5:g.19440_19441delinsC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296388.10:c.1365_1366delinsC MANE Select | ENSP00000296388.5:p.Glu455AspfsTer7 | |
| ENST00000236040.8:c.1365_1366delinsC | ENSP00000236040.4:p.Glu455AspfsTer7 | |
| ENST00000296388.9:c.1365_1366delinsC | ENSP00000296388.5:p.Glu455AspfsTer7 | |
| ENST00000397054.7:c.1365_1366delinsC | ENSP00000380245.3:p.Glu455AspfsTer7 | |
| ENST00000431412.3:c.187_188delinsC | ||
| ENST00000447502.2:n.139_140delinsC | ||
| ENST00000460031.5:n.1557_1558delinsC | ||
| ENST00000481465.3:n.88_89delinsC | ||
| ENST00000495874.5:n.1645_1646delinsC | ||
| NM_001146289.1:c.1365_1366delinsC , LRG_5t2:c.1365_1366delinsC | NP_001139761.1:p.Glu455AspfsTer7 | |
| NM_001243246.1:c.1365_1366delinsC , LRG_5t3:c.1365_1366delinsC | NP_001230175.1:p.Glu455AspfsTer7 | |
| NM_022356.3:c.1365_1366delinsC , LRG_5t1:c.1365_1366delinsC | NP_071751.3:p.Glu455AspfsTer7 | |
| XM_005271110.2:c.357_358delinsC | XP_005271167.1:p.Glu119AspfsTer7 | |
| XM_011541947.1:c.390_391delinsC | XP_011540249.1:p.Glu130AspfsTer7 | |
| XM_011541948.1:c.390_391delinsC | XP_011540250.1:p.Glu130AspfsTer7 | |
| XM_011541949.1:c.387_388delinsC | XP_011540251.1:p.Glu129AspfsTer7 | |
| XM_017002051.2:c.390_391delinsC | XP_016857540.1:p.Glu130AspfsTer7 | |
| XM_017002052.2:c.387_388delinsC | XP_016857541.1:p.Glu129AspfsTer7 | |
| XR_946739.2:n.1490_1491delinsC | ||
| NM_022356.4:c.1365_1366delinsC MANE Select | NP_071751.3:p.Glu455AspfsTer7 | |
| NM_001146289.2:c.1365_1366delinsC | NP_001139761.1:p.Glu455AspfsTer7 | |
| NM_001243246.2:c.1365_1366delinsC | NP_001230175.1:p.Glu455AspfsTer7 |