Canonical Allele Identifier: CA403668528

Gene: INSR

Linked Data

• dbSNP Id: rs1370871210
• gnomAD v2: 19-7117224-C-T
• gnomAD v3: 19-7117213-C-T
• gnomAD v4: 19-7117213-C-T
• MyVariant Identifiers: chr19:g.7117224C>T (hg19) ; chr19:g.7117213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117213C>T , CM000681.2:g.7117213C>T	GRCh38
NC_000019.9:g.7117224C>T , CM000681.1:g.7117224C>T	GRCh37
NC_000019.8:g.7068224C>T	NCBI36
NG_008852.2:g.181788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3992G>A MANE Select	ENSP00000303830.4:p.Arg1331His
ENST00000302850.9:c.3992G>A	ENSP00000303830.4:p.Arg1331His
ENST00000341500.9:c.3956G>A	ENSP00000342838.4:p.Arg1319His
NM_000208.2:c.3992G>A	NP_000199.2:p.Arg1331His
NM_000208.3:c.3992G>A	NP_000199.2:p.Arg1331His
NM_001079817.1:c.3956G>A	NP_001073285.1:p.Arg1319His
NM_001079817.2:c.3956G>A	NP_001073285.1:p.Arg1319His
XM_011527988.1:c.4067G>A	XP_011526290.1:p.Arg1356His
XM_011527989.1:c.4031G>A	XP_011526291.1:p.Arg1344His
XM_011527988.2:c.3989G>A	XP_011526290.2:p.Arg1330His
XM_011527989.3:c.3953G>A	XP_011526291.2:p.Arg1318His
NM_000208.4:c.3992G>A MANE Select	NP_000199.2:p.Arg1331His
NM_001079817.3:c.3956G>A	NP_001073285.1:p.Arg1319His