Canonical Allele Identifier: CA208959
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 211195
dbSNP Id: rs146588336
gnomAD v2: 19-7132173-G-C
gnomAD v3: 19-7132162-G-C
gnomAD v4: 19-7132162-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132162G>C , CM000681.2:g.7132162G>C GRCh38
NC_000019.9:g.7132173G>C , CM000681.1:g.7132173G>C GRCh37
NC_000019.8:g.7083173G>C NCBI36
NG_008852.2:g.166839C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2838C>G MANE Select ENSP00000303830.4:p.Asp946Glu
ENST00000302850.9:c.2838C>G ENSP00000303830.4:p.Asp946Glu
ENST00000341500.9:c.2802C>G ENSP00000342838.4:p.Asp934Glu
NM_000208.2:c.2838C>G NP_000199.2:p.Asp946Glu
NM_000208.3:c.2838C>G NP_000199.2:p.Asp946Glu
NM_001079817.1:c.2802C>G NP_001073285.1:p.Asp934Glu
NM_001079817.2:c.2802C>G NP_001073285.1:p.Asp934Glu
XM_011527988.1:c.2916C>G XP_011526290.1:p.Asp972Glu
XM_011527989.1:c.2880C>G XP_011526291.1:p.Asp960Glu
XM_011527988.2:c.2838C>G XP_011526290.2:p.Asp946Glu
XM_011527989.3:c.2802C>G XP_011526291.2:p.Asp934Glu
NM_000208.4:c.2838C>G MANE Select NP_000199.2:p.Asp946Glu
NM_001079817.3:c.2802C>G NP_001073285.1:p.Asp934Glu