Linked Data
dbSNP Id:
rs753645499
ExAC:
10:50708545 T / TTCATCA
gnomAD v2:
10-50708545-T-TTCATCA
gnomAD v4:
10-49500499-T-TTCATCA
MyVariant Identifiers:
chr10:g.50708545_50708546insTCATCA (hg19)
chr10:g.49500499_49500500insTCATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49500499_49500500insTCATCA , CM000672.2:g.49500499_49500500insTCATCA | GRCh38 |
| NC_000010.10:g.50708545_50708546insTCATCA , CM000672.1:g.50708545_50708546insTCATCA | GRCh37 |
| NC_000010.9:g.50378551_50378552insTCATCA | NCBI36 |
| NG_009442.1:g.43602_43603insTGATGA , LRG_465:g.43602_43603insTGATGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1685+38_1685+39insTGATGA MANE Select | ENSP00000348089.5:n.1685+38_1685+39insTGATGA | |
| ENST00000681632.1:n.1763+38_1763+39insTGATGA | ||
| ENST00000681659.1:c.1526+5384_1526+5385insTGATGA | ENSP00000505631.1:n.1526+5384_1526+5385insTGATGA | |
| ENST00000355832.9:c.1685+38_1685+39insTGATGA | ENSP00000348089.5:n.1685+38_1685+39insTGATGA | |
| ENST00000475116.1:n.275+38_275+39insTGATGA | ||
| ENST00000623073.3:c.86+38_86+39insTGATGA | ENSP00000485650.1:n.86+38_86+39insTGATGA | |
| ENST00000623115.3:c.-70+38_-70+39insTGATGA | ENSP00000485321.1:n.-70+38_-70+39insTGATGA | |
| ENST00000623318.1:c.86+38_86+39insTGATGA | ENSP00000485423.1:n.86+38_86+39insTGATGA | |
| NM_000124.3:c.1685+38_1685+39insTGATGA | NP_000115.1:n.1685+38_1685+39insTGATGA | |
| NM_001346440.1:c.1685+38_1685+39insTGATGA | NP_001333369.1:n.1685+38_1685+39insTGATGA | |
| NM_000124.4:c.1685+38_1685+39insTGATGA MANE Select | NP_000115.1:n.1685+38_1685+39insTGATGA | |
| NM_001346440.2:c.1685+38_1685+39insTGATGA | NP_001333369.1:n.1685+38_1685+39insTGATGA |