Canonical Allele Identifier: CA304873539

Gene: INSR

Linked Data

• dbSNP Id: rs45596938
• gnomAD v2: 19-7125516-C-T
• gnomAD v4: 19-7125505-C-T
• MyVariant Identifiers: chr19:g.7125516C>T (hg19) ; chr19:g.7125505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125505C>T , CM000681.2:g.7125505C>T	GRCh38
NC_000019.9:g.7125516C>T , CM000681.1:g.7125516C>T	GRCh37
NC_000019.8:g.7076516C>T	NCBI36
NG_008852.2:g.173496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3036G>A MANE Select	ENSP00000303830.4:p.Val1012=
ENST00000302850.9:c.3036G>A	ENSP00000303830.4:p.Val1012=
ENST00000341500.9:c.3000G>A	ENSP00000342838.4:p.Val1000=
NM_000208.2:c.3036G>A	NP_000199.2:p.Val1012=
NM_000208.3:c.3036G>A	NP_000199.2:p.Val1012=
NM_001079817.1:c.3000G>A	NP_001073285.1:p.Val1000=
NM_001079817.2:c.3000G>A	NP_001073285.1:p.Val1000=
XM_011527988.1:c.3111G>A	XP_011526290.1:p.Val1037=
XM_011527989.1:c.3075G>A	XP_011526291.1:p.Val1025=
XM_011527988.2:c.3033G>A	XP_011526290.2:p.Val1011=
XM_011527989.3:c.2997G>A	XP_011526291.2:p.Val999=
NM_000208.4:c.3036G>A MANE Select	NP_000199.2:p.Val1012=
NM_001079817.3:c.3000G>A	NP_001073285.1:p.Val1000=