Canonical Allele Identifier: CA403668814

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7117347A>T (hg19) ; chr19:g.7117336A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117336A>T , CM000681.2:g.7117336A>T	GRCh38
NC_000019.9:g.7117347A>T , CM000681.1:g.7117347A>T	GRCh37
NC_000019.8:g.7068347A>T	NCBI36
NG_008852.2:g.181665T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3869T>A MANE Select	ENSP00000303830.4:p.Leu1290His
ENST00000302850.9:c.3869T>A	ENSP00000303830.4:p.Leu1290His
ENST00000341500.9:c.3833T>A	ENSP00000342838.4:p.Leu1278His
NM_000208.2:c.3869T>A	NP_000199.2:p.Leu1290His
NM_000208.3:c.3869T>A	NP_000199.2:p.Leu1290His
NM_001079817.1:c.3833T>A	NP_001073285.1:p.Leu1278His
NM_001079817.2:c.3833T>A	NP_001073285.1:p.Leu1278His
XM_011527988.1:c.3944T>A	XP_011526290.1:p.Leu1315His
XM_011527989.1:c.3908T>A	XP_011526291.1:p.Leu1303His
XM_011527988.2:c.3866T>A	XP_011526290.2:p.Leu1289His
XM_011527989.3:c.3830T>A	XP_011526291.2:p.Leu1277His
NM_000208.4:c.3869T>A MANE Select	NP_000199.2:p.Leu1290His
NM_001079817.3:c.3833T>A	NP_001073285.1:p.Leu1278His