Canonical Allele Identifier: CA9135336

Gene: INSR

Linked Data

• dbSNP Id: rs762687424
• ExAC: 19:7125350 G / T
• gnomAD v2: 19-7125350-G-T
• gnomAD v4: 19-7125339-G-T
• MyVariant Identifiers: chr19:g.7125350G>T (hg19) ; chr19:g.7125339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125339G>T , CM000681.2:g.7125339G>T	GRCh38
NC_000019.9:g.7125350G>T , CM000681.1:g.7125350G>T	GRCh37
NC_000019.8:g.7076350G>T	NCBI36
NG_008852.2:g.173662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3202C>A MANE Select	ENSP00000303830.4:p.Arg1068=
ENST00000302850.9:c.3202C>A	ENSP00000303830.4:p.Arg1068=
ENST00000341500.9:c.3166C>A	ENSP00000342838.4:p.Arg1056=
ENST00000593970.1:n.48C>A
NM_000208.2:c.3202C>A	NP_000199.2:p.Arg1068=
NM_000208.3:c.3202C>A	NP_000199.2:p.Arg1068=
NM_001079817.1:c.3166C>A	NP_001073285.1:p.Arg1056=
NM_001079817.2:c.3166C>A	NP_001073285.1:p.Arg1056=
XM_011527988.1:c.3277C>A	XP_011526290.1:p.Arg1093=
XM_011527989.1:c.3241C>A	XP_011526291.1:p.Arg1081=
XM_011527988.2:c.3199C>A	XP_011526290.2:p.Arg1067=
XM_011527989.3:c.3163C>A	XP_011526291.2:p.Arg1055=
NM_000208.4:c.3202C>A MANE Select	NP_000199.2:p.Arg1068=
NM_001079817.3:c.3166C>A	NP_001073285.1:p.Arg1056=