Linked Data
dbSNP Id:
rs1579778271
gnomAD v2:
5-56177397-G-GTTTT
MyVariant Identifiers:
chr5:g.56177397_56177398insTTTT (hg19)
chr5:g.56881570_56881571insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881571_56881572insTTTT , CM000667.2:g.56881571_56881572insTTTT | GRCh38 |
| NC_000005.9:g.56177398_56177399insTTTT , CM000667.1:g.56177398_56177399insTTTT | GRCh37 |
| NC_000005.8:g.56213155_56213156insTTTT | NCBI36 |
| NG_031884.1:g.71499_71500insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2371_2372insTTTT MANE Select | ENSP00000382423.3:p.Tyr791PhefsTer3 | |
| ENST00000399503.3:c.2371_2372insTTTT | ENSP00000382423.3:p.Tyr791PhefsTer3 | |
| NM_005921.1:c.2371_2372insTTTT | NP_005912.1:p.Tyr791PhefsTer3 | |
| XM_005248519.3:c.1993_1994insTTTT | XP_005248576.2:p.Tyr665PhefsTer3 | |
| XM_011543406.1:c.2116_2117insTTTT | XP_011541708.1:p.Tyr706PhefsTer3 | |
| XM_011543407.1:c.2092_2093insTTTT | XP_011541709.1:p.Tyr698PhefsTer3 | |
| XM_011543408.1:c.2371_2372insTTTT | XP_011541710.1:p.Tyr791PhefsTer3 | |
| XM_017009484.1:c.1960_1961insTTTT | XP_016864973.1:p.Tyr654PhefsTer3 | |
| XM_017009485.1:c.1882_1883insTTTT | XP_016864974.1:p.Tyr628PhefsTer3 | |
| XR_001742068.2:n.2402_2403insTTTT | ||
| NM_005921.2:c.2371_2372insTTTT MANE Select | NP_005912.1:p.Tyr791PhefsTer3 |