Canonical Allele Identifier: CA9135895

Gene: INSR

Linked Data

• dbSNP Id: rs767765177
• ExAC: 19:7172403 T / A
• gnomAD v2: 19-7172403-T-A
• gnomAD v4: 19-7172392-T-A
• MyVariant Identifiers: chr19:g.7172403T>A (hg19) ; chr19:g.7172392T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172392T>A , CM000681.2:g.7172392T>A	GRCh38
NC_000019.9:g.7172403T>A , CM000681.1:g.7172403T>A	GRCh37
NC_000019.8:g.7123403T>A	NCBI36
NG_008852.2:g.126609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1166A>T MANE Select	ENSP00000303830.4:p.Glu389Val
ENST00000302850.9:c.1166A>T	ENSP00000303830.4:p.Glu389Val
ENST00000341500.9:c.1166A>T	ENSP00000342838.4:p.Glu389Val
ENST00000598216.1:n.1141A>T
NM_000208.2:c.1166A>T	NP_000199.2:p.Glu389Val
NM_000208.3:c.1166A>T	NP_000199.2:p.Glu389Val
NM_001079817.1:c.1166A>T	NP_001073285.1:p.Glu389Val
NM_001079817.2:c.1166A>T	NP_001073285.1:p.Glu389Val
XM_011527988.1:c.1244A>T	XP_011526290.1:p.Glu415Val
XM_011527989.1:c.1244A>T	XP_011526291.1:p.Glu415Val
XM_011527988.2:c.1166A>T	XP_011526290.2:p.Glu389Val
XM_011527989.3:c.1166A>T	XP_011526291.2:p.Glu389Val
NM_000208.4:c.1166A>T MANE Select	NP_000199.2:p.Glu389Val
NM_001079817.3:c.1166A>T	NP_001073285.1:p.Glu389Val