Canonical Allele Identifier: CA9135109

Gene: INSR

Linked Data

• dbSNP Id: rs781710569
• ExAC: 19:7117221 G / A
• gnomAD v2: 19-7117221-G-A
• gnomAD v4: 19-7117210-G-A
• MyVariant Identifiers: chr19:g.7117221G>A (hg19) ; chr19:g.7117210G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117210G>A , CM000681.2:g.7117210G>A	GRCh38
NC_000019.9:g.7117221G>A , CM000681.1:g.7117221G>A	GRCh37
NC_000019.8:g.7068221G>A	NCBI36
NG_008852.2:g.181791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3995C>T MANE Select	ENSP00000303830.4:p.Ser1332Phe
ENST00000302850.9:c.3995C>T	ENSP00000303830.4:p.Ser1332Phe
ENST00000341500.9:c.3959C>T	ENSP00000342838.4:p.Ser1320Phe
NM_000208.2:c.3995C>T	NP_000199.2:p.Ser1332Phe
NM_000208.3:c.3995C>T	NP_000199.2:p.Ser1332Phe
NM_001079817.1:c.3959C>T	NP_001073285.1:p.Ser1320Phe
NM_001079817.2:c.3959C>T	NP_001073285.1:p.Ser1320Phe
XM_011527988.1:c.4070C>T	XP_011526290.1:p.Ser1357Phe
XM_011527989.1:c.4034C>T	XP_011526291.1:p.Ser1345Phe
XM_011527988.2:c.3992C>T	XP_011526290.2:p.Ser1331Phe
XM_011527989.3:c.3956C>T	XP_011526291.2:p.Ser1319Phe
NM_000208.4:c.3995C>T MANE Select	NP_000199.2:p.Ser1332Phe
NM_001079817.3:c.3959C>T	NP_001073285.1:p.Ser1320Phe