Linked Data
dbSNP Id:
rs1306957862
gnomAD v2:
3-189713347-T-TTG
gnomAD v3:
3-189995558-T-TTG
gnomAD v4:
3-189995558-T-TTG
MyVariant Identifiers:
chr3:g.189713347_189713348insTG (hg19)
chr3:g.189995558_189995559insTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189995559_189995560insGT , CM000665.2:g.189995559_189995560insGT | GRCh38 |
| NC_000003.11:g.189713348_189713349insGT , CM000665.1:g.189713348_189713349insGT | GRCh37 |
| NC_000003.10:g.191196042_191196043insGT | NCBI36 |
| NG_031929.1:g.131879_131880insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319332.10:c.481-117_481-116insCA MANE Select | ENSP00000316881.5:n.481-117_481-116insCA | |
| ENST00000319332.9:c.481-117_481-116insCA | ENSP00000316881.5:n.481-117_481-116insCA | |
| ENST00000426003.1:c.-63-117_-63-116insCA | ENSP00000394326.1:n.-63-117_-63-116insCA | |
| ENST00000427335.6:c.-63-117_-63-116insCA | ENSP00000408947.2:n.-63-117_-63-116insCA | |
| ENST00000444866.5:c.-63-117_-63-116insCA | ENSP00000391374.1:n.-63-117_-63-116insCA | |
| NM_001134418.1:c.-63-117_-63-116insCA | NP_001127890.1:n.-63-117_-63-116insCA | |
| NM_018192.3:c.481-117_481-116insCA | NP_060662.2:n.481-117_481-116insCA | |
| XM_011512955.1:c.-63-117_-63-116insCA | XP_011511257.1:n.-63-117_-63-116insCA | |
| NM_018192.4:c.481-117_481-116insCA MANE Select | NP_060662.2:n.481-117_481-116insCA | |
| NM_001134418.2:c.-63-117_-63-116insCA | NP_001127890.1:n.-63-117_-63-116insCA |