Canonical Allele Identifier: CA403669284

Gene: INSR

Linked Data

• ClinVar Variation Id: 439840
• ClinVar RCV Id: RCV000506622
• dbSNP Id: rs1555734564
• MyVariant Identifiers: chr19:g.7119586C>T (hg19) ; chr19:g.7119575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7119575C>T , CM000681.2:g.7119575C>T	GRCh38
NC_000019.9:g.7119586C>T , CM000681.1:g.7119586C>T	GRCh37
NC_000019.8:g.7070586C>T	NCBI36
NG_008852.2:g.179426G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3668G>A MANE Select	ENSP00000303830.4:p.Gly1223Asp
ENST00000302850.9:c.3668G>A	ENSP00000303830.4:p.Gly1223Asp
ENST00000341500.9:c.3632G>A	ENSP00000342838.4:p.Gly1211Asp
NM_000208.2:c.3668G>A	NP_000199.2:p.Gly1223Asp
NM_000208.3:c.3668G>A	NP_000199.2:p.Gly1223Asp
NM_001079817.1:c.3632G>A	NP_001073285.1:p.Gly1211Asp
NM_001079817.2:c.3632G>A	NP_001073285.1:p.Gly1211Asp
XM_011527988.1:c.3743G>A	XP_011526290.1:p.Gly1248Asp
XM_011527989.1:c.3707G>A	XP_011526291.1:p.Gly1236Asp
XM_011527988.2:c.3665G>A	XP_011526290.2:p.Gly1222Asp
XM_011527989.3:c.3629G>A	XP_011526291.2:p.Gly1210Asp
NM_000208.4:c.3668G>A MANE Select	NP_000199.2:p.Gly1223Asp
NM_001079817.3:c.3632G>A	NP_001073285.1:p.Gly1211Asp