Canonical Allele Identifier: CA403671348

Gene: INSR

Linked Data

• COSMIC: COSM4541858 ; COSM4541859
• MyVariant Identifiers: chr19:g.7125470C>T (hg19) ; chr19:g.7125459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125459C>T , CM000681.2:g.7125459C>T	GRCh38
NC_000019.9:g.7125470C>T , CM000681.1:g.7125470C>T	GRCh37
NC_000019.8:g.7076470C>T	NCBI36
NG_008852.2:g.173542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3082G>A MANE Select	ENSP00000303830.4:p.Glu1028Lys
ENST00000302850.9:c.3082G>A	ENSP00000303830.4:p.Glu1028Lys
ENST00000341500.9:c.3046G>A	ENSP00000342838.4:p.Glu1016Lys
NM_000208.2:c.3082G>A	NP_000199.2:p.Glu1028Lys
NM_000208.3:c.3082G>A	NP_000199.2:p.Glu1028Lys
NM_001079817.1:c.3046G>A	NP_001073285.1:p.Glu1016Lys
NM_001079817.2:c.3046G>A	NP_001073285.1:p.Glu1016Lys
XM_011527988.1:c.3157G>A	XP_011526290.1:p.Glu1053Lys
XM_011527989.1:c.3121G>A	XP_011526291.1:p.Glu1041Lys
XM_011527988.2:c.3079G>A	XP_011526290.2:p.Glu1027Lys
XM_011527989.3:c.3043G>A	XP_011526291.2:p.Glu1015Lys
NM_000208.4:c.3082G>A MANE Select	NP_000199.2:p.Glu1028Lys
NM_001079817.3:c.3046G>A	NP_001073285.1:p.Glu1016Lys