Canonical Allele Identifier: CA403668696
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1452511864
gnomAD v2: 19-7117296-T-C
gnomAD v4: 19-7117285-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117285T>C , CM000681.2:g.7117285T>C GRCh38
NC_000019.9:g.7117296T>C , CM000681.1:g.7117296T>C GRCh37
NC_000019.8:g.7068296T>C NCBI36
NG_008852.2:g.181716A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3920A>G MANE Select ENSP00000303830.4:p.Glu1307Gly
ENST00000302850.9:c.3920A>G ENSP00000303830.4:p.Glu1307Gly
ENST00000341500.9:c.3884A>G ENSP00000342838.4:p.Glu1295Gly
NM_000208.2:c.3920A>G NP_000199.2:p.Glu1307Gly
NM_000208.3:c.3920A>G NP_000199.2:p.Glu1307Gly
NM_001079817.1:c.3884A>G NP_001073285.1:p.Glu1295Gly
NM_001079817.2:c.3884A>G NP_001073285.1:p.Glu1295Gly
XM_011527988.1:c.3995A>G XP_011526290.1:p.Glu1332Gly
XM_011527989.1:c.3959A>G XP_011526291.1:p.Glu1320Gly
XM_011527988.2:c.3917A>G XP_011526290.2:p.Glu1306Gly
XM_011527989.3:c.3881A>G XP_011526291.2:p.Glu1294Gly
NM_000208.4:c.3920A>G MANE Select NP_000199.2:p.Glu1307Gly
NM_001079817.3:c.3884A>G NP_001073285.1:p.Glu1295Gly