Canonical Allele Identifier: CA403668605
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1273690290
gnomAD v2: 19-7117257-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117246T>C , CM000681.2:g.7117246T>C GRCh38
NC_000019.9:g.7117257T>C , CM000681.1:g.7117257T>C GRCh37
NC_000019.8:g.7068257T>C NCBI36
NG_008852.2:g.181755A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3959A>G MANE Select ENSP00000303830.4:p.Glu1320Gly
ENST00000302850.9:c.3959A>G ENSP00000303830.4:p.Glu1320Gly
ENST00000341500.9:c.3923A>G ENSP00000342838.4:p.Glu1308Gly
NM_000208.2:c.3959A>G NP_000199.2:p.Glu1320Gly
NM_000208.3:c.3959A>G NP_000199.2:p.Glu1320Gly
NM_001079817.1:c.3923A>G NP_001073285.1:p.Glu1308Gly
NM_001079817.2:c.3923A>G NP_001073285.1:p.Glu1308Gly
XM_011527988.1:c.4034A>G XP_011526290.1:p.Glu1345Gly
XM_011527989.1:c.3998A>G XP_011526291.1:p.Glu1333Gly
XM_011527988.2:c.3956A>G XP_011526290.2:p.Glu1319Gly
XM_011527989.3:c.3920A>G XP_011526291.2:p.Glu1307Gly
NM_000208.4:c.3959A>G MANE Select NP_000199.2:p.Glu1320Gly
NM_001079817.3:c.3923A>G NP_001073285.1:p.Glu1308Gly