Canonical Allele Identifier: CA505400289

Gene: INSR

Linked Data

• dbSNP Id: rs1374439810
• gnomAD v2: 19-7125501-C-T
• gnomAD v4: 19-7125490-C-T
• MyVariant Identifiers: chr19:g.7125501C>T (hg19) ; chr19:g.7125490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125490C>T , CM000681.2:g.7125490C>T	GRCh38
NC_000019.9:g.7125501C>T , CM000681.1:g.7125501C>T	GRCh37
NC_000019.8:g.7076501C>T	NCBI36
NG_008852.2:g.173511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3051G>A MANE Select	ENSP00000303830.4:p.Glu1017=
ENST00000302850.9:c.3051G>A	ENSP00000303830.4:p.Glu1017=
ENST00000341500.9:c.3015G>A	ENSP00000342838.4:p.Glu1005=
NM_000208.2:c.3051G>A	NP_000199.2:p.Glu1017=
NM_000208.3:c.3051G>A	NP_000199.2:p.Glu1017=
NM_001079817.1:c.3015G>A	NP_001073285.1:p.Glu1005=
NM_001079817.2:c.3015G>A	NP_001073285.1:p.Glu1005=
XM_011527988.1:c.3126G>A	XP_011526290.1:p.Glu1042=
XM_011527989.1:c.3090G>A	XP_011526291.1:p.Glu1030=
XM_011527988.2:c.3048G>A	XP_011526290.2:p.Glu1016=
XM_011527989.3:c.3012G>A	XP_011526291.2:p.Glu1004=
NM_000208.4:c.3051G>A MANE Select	NP_000199.2:p.Glu1017=
NM_001079817.3:c.3015G>A	NP_001073285.1:p.Glu1005=