Linked Data
dbSNP Id:
rs1161475372
gnomAD v2:
10-131565238-T-TC
gnomAD v4:
10-129766974-T-TC
MyVariant Identifiers:
chr10:g.131565238_131565239insC (hg19)
chr10:g.129766974_129766975insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766978dup , CM000672.2:g.129766978dup | GRCh38 |
| NC_000010.10:g.131565242dup , CM000672.1:g.131565242dup | GRCh37 |
| NC_000010.9:g.131455232dup | NCBI36 |
| NG_052673.1:g.304795dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.698dup | ENSP00000302111.7:p.Pro234AlafsTer15 | |
| ENST00000651593.1:c.605dup MANE Select | ENSP00000498729.1:p.Pro203AlafsTer15 | |
| ENST00000306010.7:c.698dup | ENSP00000302111.7:p.Pro234AlafsTer15 | |
| NM_002412.3:c.698dup | NP_002403.2:p.Pro234AlafsTer15 | |
| NM_002412.4:c.698dup | NP_002403.2:p.Pro234AlafsTer15 | |
| XM_005252682.2:c.605dup | XP_005252739.1:p.Pro203AlafsTer15 | |
| XM_006717863.2:c.428dup | XP_006717926.1:p.Pro144AlafsTer15 | |
| XM_011539817.1:c.614dup | XP_011538119.1:p.Pro206AlafsTer15 | |
| NM_002412.5:c.605dup MANE Select | NP_002403.3:p.Pro203AlafsTer15 | |
| XM_017016275.1:c.428dup | XP_016871764.1:p.Pro144AlafsTer15 |