Canonical Allele Identifier: CA9135354

Gene: INSR

Linked Data

• dbSNP Id: rs773975823
• ExAC: 19:7125420 G / A
• gnomAD v2: 19-7125420-G-A
• gnomAD v3: 19-7125409-G-A
• gnomAD v4: 19-7125409-G-A
• MyVariant Identifiers: chr19:g.7125420G>A (hg19) ; chr19:g.7125409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125409G>A , CM000681.2:g.7125409G>A	GRCh38
NC_000019.9:g.7125420G>A , CM000681.1:g.7125420G>A	GRCh37
NC_000019.8:g.7076420G>A	NCBI36
NG_008852.2:g.173592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3132C>T MANE Select	ENSP00000303830.4:p.Asp1044=
ENST00000302850.9:c.3132C>T	ENSP00000303830.4:p.Asp1044=
ENST00000341500.9:c.3096C>T	ENSP00000342838.4:p.Asp1032=
NM_000208.2:c.3132C>T	NP_000199.2:p.Asp1044=
NM_000208.3:c.3132C>T	NP_000199.2:p.Asp1044=
NM_001079817.1:c.3096C>T	NP_001073285.1:p.Asp1032=
NM_001079817.2:c.3096C>T	NP_001073285.1:p.Asp1032=
XM_011527988.1:c.3207C>T	XP_011526290.1:p.Asp1069=
XM_011527989.1:c.3171C>T	XP_011526291.1:p.Asp1057=
XM_011527988.2:c.3129C>T	XP_011526290.2:p.Asp1043=
XM_011527989.3:c.3093C>T	XP_011526291.2:p.Asp1031=
NM_000208.4:c.3132C>T MANE Select	NP_000199.2:p.Asp1044=
NM_001079817.3:c.3096C>T	NP_001073285.1:p.Asp1032=