Linked Data
ClinVar Variation Id:
126431
ClinVar RCV Id:
RCV000114371
dbSNP Id:
rs587777270
MyVariant Identifiers:
chr1:g.91731618_91731619delinsC (hg19)
chr1:g.91266061_91266062delinsC (hg38)
PubMed:
PMID:24597873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.91266061_91266062delinsC , CM000663.2:g.91266061_91266062delinsC | GRCh38 |
| NC_000001.10:g.91731618_91731619delinsC , CM000663.1:g.91731618_91731619delinsC | GRCh37 |
| NC_000001.9:g.91504206_91504207delinsC | NCBI36 |
| NG_034120.1:g.143808_143809delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370425.8:c.3929_3930delinsG MANE Select | ENSP00000359454.3:p.Pro1310ArgfsTer? | |
| ENST00000370425.7:c.3929_3930delinsG | ENSP00000359454.3:p.Pro1310ArgfsTer? | |
| ENST00000430465.1:c.1564_1565delinsG | ||
| ENST00000462405.5:n.1809+1683_1809+1684delinsG | ||
| NM_001017975.4:c.3929_3930delinsG | NP_001017975.4:p.Pro1310ArgfsTer? | |
| XM_006710395.2:c.2162_2163delinsG | XP_006710458.1:p.Pro721ArgfsTer? | |
| XM_011540847.1:c.3926_3927delinsG | XP_011539149.1:p.Pro1309ArgfsTer? | |
| XM_011540848.1:c.3848_3849delinsG | XP_011539150.1:p.Pro1283ArgfsTer? | |
| XM_011540849.1:c.3929_3930delinsG | XP_011539151.1:p.Pro1310ArgfsTer? | |
| XM_011540850.1:c.3929_3930delinsG | XP_011539152.1:p.Pro1310ArgfsTer? | |
| XM_011540851.1:c.3929_3930delinsG | XP_011539153.1:p.Pro1310ArgfsTer? | |
| XM_011540852.1:c.3929_3930delinsG | XP_011539154.1:p.Pro1310ArgfsTer? | |
| XM_011540853.1:c.3797_3798delinsG | XP_011539155.1:p.Pro1266ArgfsTer? | |
| XM_011540854.1:c.3929_3930delinsG | XP_011539156.1:p.Pro1310ArgfsTer? | |
| XM_011540855.1:c.3803_3804delinsG | XP_011539157.1:p.Pro1268ArgfsTer? | |
| XM_011540856.1:c.3883+1683_3883+1684delinsG | XP_011539158.1:n.3883+1683_3883+1684delin... | |
| XM_011540857.1:c.3506_3507delinsG | XP_011539159.1:p.Pro1169ArgfsTer? | |
| XM_011540858.1:c.2966_2967delinsG | XP_011539160.1:p.Pro989ArgfsTer? | |
| XM_011540859.1:c.2756_2757delinsG | XP_011539161.1:p.Pro919ArgfsTer? | |
| XM_011540850.2:c.3929_3930delinsG | XP_011539152.1:p.Pro1310ArgfsTer? | |
| XM_011540852.2:c.3929_3930delinsG | XP_011539154.1:p.Pro1310ArgfsTer? | |
| XM_011540855.2:c.3803_3804delinsG | XP_011539157.1:p.Pro1268ArgfsTer? | |
| XM_011540859.2:c.2756_2757delinsG | XP_011539161.1:p.Pro919ArgfsTer? | |
| XM_017000490.1:c.3848_3849delinsG | XP_016855979.1:p.Pro1283ArgfsTer? | |
| XM_017000491.1:c.3797_3798delinsG | XP_016855980.1:p.Pro1266ArgfsTer? | |
| XM_017000492.1:c.2966_2967delinsG | XP_016855981.1:p.Pro989ArgfsTer? | |
| XM_017000493.1:c.2258_2259delinsG | XP_016855982.1:p.Pro753ArgfsTer? | |
| XR_001737008.1:n.3926+1683_3926+1684delinsG | ||
| XR_001737009.1:n.3840+1683_3840+1684delinsG | ||
| XR_001737010.1:n.3708+1683_3708+1684delinsG | ||
| NM_001017975.5:c.3929_3930delinsG | NP_001017975.4:p.Pro1310ArgfsTer? | |
| NM_001017975.6:c.3929_3930delinsG MANE Select | NP_001017975.5:p.Pro1310ArgfsTer? | |
| NR_165455.1:n.3519_3520delinsG |