Canonical Allele Identifier: CA9135660

Gene: INSR

Linked Data

• ClinVar Variation Id: 435518
• ClinVar RCV Id: RCV000500908 ; RCV001129887 ; RCV001129888 ; RCV001129889 ; RCV002527259
• dbSNP Id: rs142391704
• ExAC: 19:7152851 G / T
• gnomAD v2: 19-7152851-G-T
• gnomAD v3: 19-7152840-G-T
• gnomAD v4: 19-7152840-G-T
• MyVariant Identifiers: chr19:g.7152851G>T (hg19) ; chr19:g.7152840G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7152840G>T , CM000681.2:g.7152840G>T	GRCh38
NC_000019.9:g.7152851G>T , CM000681.1:g.7152851G>T	GRCh37
NC_000019.8:g.7103851G>T	NCBI36
NG_008852.2:g.146161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2117C>A MANE Select	ENSP00000303830.4:p.Ala706Asp
ENST00000302850.9:c.2117C>A	ENSP00000303830.4:p.Ala706Asp
ENST00000341500.9:c.2117C>A	ENSP00000342838.4:p.Ala706Asp
ENST00000598216.1:n.2092C>A
NM_000208.2:c.2117C>A	NP_000199.2:p.Ala706Asp
NM_000208.3:c.2117C>A	NP_000199.2:p.Ala706Asp
NM_001079817.1:c.2117C>A	NP_001073285.1:p.Ala706Asp
NM_001079817.2:c.2117C>A	NP_001073285.1:p.Ala706Asp
XM_011527988.1:c.2195C>A	XP_011526290.1:p.Ala732Asp
XM_011527989.1:c.2195C>A	XP_011526291.1:p.Ala732Asp
XM_011527988.2:c.2117C>A	XP_011526290.2:p.Ala706Asp
XM_011527989.3:c.2117C>A	XP_011526291.2:p.Ala706Asp
NM_000208.4:c.2117C>A MANE Select	NP_000199.2:p.Ala706Asp
NM_001079817.3:c.2117C>A	NP_001073285.1:p.Ala706Asp