Canonical Allele Identifier: CA9135504

Gene: INSR

Linked Data

• ClinVar Variation Id: 892864
• ClinVar RCV Id: RCV001129682 ; RCV001129680 ; RCV001129681
• dbSNP Id: rs200110540
• ExAC: 19:7141774 C / T
• gnomAD v2: 19-7141774-C-T
• gnomAD v3: 19-7141763-C-T
• gnomAD v4: 19-7141763-C-T
• MyVariant Identifiers: chr19:g.7141774C>T (hg19) ; chr19:g.7141763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7141763C>T , CM000681.2:g.7141763C>T	GRCh38
NC_000019.9:g.7141774C>T , CM000681.1:g.7141774C>T	GRCh37
NC_000019.8:g.7092774C>T	NCBI36
NG_008852.2:g.157238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2596G>A MANE Select	ENSP00000303830.4:p.Val866Ile
ENST00000302850.9:c.2596G>A	ENSP00000303830.4:p.Val866Ile
ENST00000341500.9:c.2560G>A	ENSP00000342838.4:p.Val854Ile
ENST00000597211.1:n.279G>A
NM_000208.2:c.2596G>A	NP_000199.2:p.Val866Ile
NM_000208.3:c.2596G>A	NP_000199.2:p.Val866Ile
NM_001079817.1:c.2560G>A	NP_001073285.1:p.Val854Ile
NM_001079817.2:c.2560G>A	NP_001073285.1:p.Val854Ile
XM_011527988.1:c.2674G>A	XP_011526290.1:p.Val892Ile
XM_011527989.1:c.2638G>A	XP_011526291.1:p.Val880Ile
XM_011527988.2:c.2596G>A	XP_011526290.2:p.Val866Ile
XM_011527989.3:c.2560G>A	XP_011526291.2:p.Val854Ile
NM_000208.4:c.2596G>A MANE Select	NP_000199.2:p.Val866Ile
NM_001079817.3:c.2560G>A	NP_001073285.1:p.Val854Ile