Canonical Allele Identifier: CA403668850

Gene: INSR

Linked Data

• dbSNP Id: rs2144790463
• COSMIC: COSM713951 ; COSM713952
• MyVariant Identifiers: chr19:g.7117363C>T (hg19) ; chr19:g.7117352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117352C>T , CM000681.2:g.7117352C>T	GRCh38
NC_000019.9:g.7117363C>T , CM000681.1:g.7117363C>T	GRCh37
NC_000019.8:g.7068363C>T	NCBI36
NG_008852.2:g.181649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3853G>A MANE Select	ENSP00000303830.4:p.Glu1285Lys
ENST00000302850.9:c.3853G>A	ENSP00000303830.4:p.Glu1285Lys
ENST00000341500.9:c.3817G>A	ENSP00000342838.4:p.Glu1273Lys
NM_000208.2:c.3853G>A	NP_000199.2:p.Glu1285Lys
NM_000208.3:c.3853G>A	NP_000199.2:p.Glu1285Lys
NM_001079817.1:c.3817G>A	NP_001073285.1:p.Glu1273Lys
NM_001079817.2:c.3817G>A	NP_001073285.1:p.Glu1273Lys
XM_011527988.1:c.3928G>A	XP_011526290.1:p.Glu1310Lys
XM_011527989.1:c.3892G>A	XP_011526291.1:p.Glu1298Lys
XM_011527988.2:c.3850G>A	XP_011526290.2:p.Glu1284Lys
XM_011527989.3:c.3814G>A	XP_011526291.2:p.Glu1272Lys
NM_000208.4:c.3853G>A MANE Select	NP_000199.2:p.Glu1285Lys
NM_001079817.3:c.3817G>A	NP_001073285.1:p.Glu1273Lys