Canonical Allele Identifier: CA9135127

Gene: INSR

Linked Data

• dbSNP Id: rs753193407
• ExAC: 19:7117348 G / A
• gnomAD v2: 19-7117348-G-A
• gnomAD v4: 19-7117337-G-A
• MyVariant Identifiers: chr19:g.7117348G>A (hg19) ; chr19:g.7117337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117337G>A , CM000681.2:g.7117337G>A	GRCh38
NC_000019.9:g.7117348G>A , CM000681.1:g.7117348G>A	GRCh37
NC_000019.8:g.7068348G>A	NCBI36
NG_008852.2:g.181664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3868C>T MANE Select	ENSP00000303830.4:p.Leu1290Phe
ENST00000302850.9:c.3868C>T	ENSP00000303830.4:p.Leu1290Phe
ENST00000341500.9:c.3832C>T	ENSP00000342838.4:p.Leu1278Phe
NM_000208.2:c.3868C>T	NP_000199.2:p.Leu1290Phe
NM_000208.3:c.3868C>T	NP_000199.2:p.Leu1290Phe
NM_001079817.1:c.3832C>T	NP_001073285.1:p.Leu1278Phe
NM_001079817.2:c.3832C>T	NP_001073285.1:p.Leu1278Phe
XM_011527988.1:c.3943C>T	XP_011526290.1:p.Leu1315Phe
XM_011527989.1:c.3907C>T	XP_011526291.1:p.Leu1303Phe
XM_011527988.2:c.3865C>T	XP_011526290.2:p.Leu1289Phe
XM_011527989.3:c.3829C>T	XP_011526291.2:p.Leu1277Phe
NM_000208.4:c.3868C>T MANE Select	NP_000199.2:p.Leu1290Phe
NM_001079817.3:c.3832C>T	NP_001073285.1:p.Leu1278Phe