Canonical Allele Identifier: CA304837688

Gene: INSR

Linked Data

• dbSNP Id: rs970043558
• gnomAD v4: 19-7142972-T-A
• MyVariant Identifiers: chr19:g.7142983T>A (hg19) ; chr19:g.7142972T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7142972T>A , CM000681.2:g.7142972T>A	GRCh38
NC_000019.9:g.7142983T>A , CM000681.1:g.7142983T>A	GRCh37
NC_000019.8:g.7093983T>A	NCBI36
NG_008852.2:g.156029A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2386A>T MANE Select	ENSP00000303830.4:p.Arg796Trp
ENST00000302850.9:c.2386A>T	ENSP00000303830.4:p.Arg796Trp
ENST00000341500.9:c.2350A>T	ENSP00000342838.4:p.Arg784Trp
ENST00000597211.1:n.69A>T
NM_000208.2:c.2386A>T	NP_000199.2:p.Arg796Trp
NM_000208.3:c.2386A>T	NP_000199.2:p.Arg796Trp
NM_001079817.1:c.2350A>T	NP_001073285.1:p.Arg784Trp
NM_001079817.2:c.2350A>T	NP_001073285.1:p.Arg784Trp
XM_011527988.1:c.2464A>T	XP_011526290.1:p.Arg822Trp
XM_011527989.1:c.2428A>T	XP_011526291.1:p.Arg810Trp
XM_011527988.2:c.2386A>T	XP_011526290.2:p.Arg796Trp
XM_011527989.3:c.2350A>T	XP_011526291.2:p.Arg784Trp
NM_000208.4:c.2386A>T MANE Select	NP_000199.2:p.Arg796Trp
NM_001079817.3:c.2350A>T	NP_001073285.1:p.Arg784Trp