Canonical Allele Identifier: CA9135122

Gene: INSR

Linked Data

• dbSNP Id: rs762727499
• ExAC: 19:7117310 C / T
• gnomAD v2: 19-7117310-C-T
• gnomAD v3: 19-7117299-C-T
• gnomAD v4: 19-7117299-C-T
• MyVariant Identifiers: chr19:g.7117310C>T (hg19) ; chr19:g.7117299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117299C>T , CM000681.2:g.7117299C>T	GRCh38
NC_000019.9:g.7117310C>T , CM000681.1:g.7117310C>T	GRCh37
NC_000019.8:g.7068310C>T	NCBI36
NG_008852.2:g.181702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3906G>A MANE Select	ENSP00000303830.4:p.Ser1302=
ENST00000302850.9:c.3906G>A	ENSP00000303830.4:p.Ser1302=
ENST00000341500.9:c.3870G>A	ENSP00000342838.4:p.Ser1290=
NM_000208.2:c.3906G>A	NP_000199.2:p.Ser1302=
NM_000208.3:c.3906G>A	NP_000199.2:p.Ser1302=
NM_001079817.1:c.3870G>A	NP_001073285.1:p.Ser1290=
NM_001079817.2:c.3870G>A	NP_001073285.1:p.Ser1290=
XM_011527988.1:c.3981G>A	XP_011526290.1:p.Ser1327=
XM_011527989.1:c.3945G>A	XP_011526291.1:p.Ser1315=
XM_011527988.2:c.3903G>A	XP_011526290.2:p.Ser1301=
XM_011527989.3:c.3867G>A	XP_011526291.2:p.Ser1289=
NM_000208.4:c.3906G>A MANE Select	NP_000199.2:p.Ser1302=
NM_001079817.3:c.3870G>A	NP_001073285.1:p.Ser1290=