Canonical Allele Identifier: CA403668193
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs767486143
gnomAD v3: 19-7117056-T-A
gnomAD v4: 19-7117056-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117056T>A , CM000681.2:g.7117056T>A GRCh38
NC_000019.9:g.7117067T>A , CM000681.1:g.7117067T>A GRCh37
NC_000019.8:g.7068067T>A NCBI36
NG_008852.2:g.181945A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.4149A>T MANE Select ENSP00000303830.4:p.Ter1383Tyr
ENST00000302850.9:c.4149A>T ENSP00000303830.4:p.Ter1383Tyr
ENST00000341500.9:c.4113A>T ENSP00000342838.4:p.Ter1371Tyr
NM_000208.2:c.4149A>T NP_000199.2:p.Ter1383Tyr
NM_000208.3:c.4149A>T NP_000199.2:p.Ter1383Tyr
NM_001079817.1:c.4113A>T NP_001073285.1:p.Ter1371Tyr
NM_001079817.2:c.4113A>T NP_001073285.1:p.Ter1371Tyr
XM_011527988.1:c.4224A>T XP_011526290.1:p.Ter1408Tyr
XM_011527989.1:c.4188A>T XP_011526291.1:p.Ter1396Tyr
XM_011527988.2:c.4146A>T XP_011526290.2:p.Ter1382Tyr
XM_011527989.3:c.4110A>T XP_011526291.2:p.Ter1370Tyr
NM_000208.4:c.4149A>T MANE Select NP_000199.2:p.Ter1383Tyr
NM_001079817.3:c.4113A>T NP_001073285.1:p.Ter1371Tyr