Canonical Allele Identifier: CA124262

Gene: INSR

Linked Data

• ClinVar Variation Id: 14707
• ClinVar RCV Id: RCV000015822 ; RCV000175131 ; RCV000344820 ; RCV000515071 ; RCV001132184 ; RCV001258250 ; RCV000445519 ; RCV001132183
• dbSNP Id: rs1799816
• ExAC: 19:7125518 C / T
• gnomAD v2: 19-7125518-C-T
• gnomAD v3: 19-7125507-C-T
• gnomAD v4: 19-7125507-C-T
• MyVariant Identifiers: chr19:g.7125518C>T (hg19) ; chr19:g.7125507C>T (hg38)
• PubMed: PMID:2040394 ; PMID:8432414 ; PMID:8900242 ; PMID:10084586 ; PMID:27535533 ; PMID:27896077

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125507C>T , CM000681.2:g.7125507C>T	GRCh38
NC_000019.9:g.7125518C>T , CM000681.1:g.7125518C>T	GRCh37
NC_000019.8:g.7076518C>T	NCBI36
NG_008852.2:g.173494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3034G>A MANE Select	ENSP00000303830.4:p.Val1012Met
ENST00000302850.9:c.3034G>A	ENSP00000303830.4:p.Val1012Met
ENST00000341500.9:c.2998G>A	ENSP00000342838.4:p.Val1000Met
NM_000208.2:c.3034G>A	NP_000199.2:p.Val1012Met
NM_000208.3:c.3034G>A	NP_000199.2:p.Val1012Met
NM_001079817.1:c.2998G>A	NP_001073285.1:p.Val1000Met
NM_001079817.2:c.2998G>A	NP_001073285.1:p.Val1000Met
XM_011527988.1:c.3109G>A	XP_011526290.1:p.Val1037Met
XM_011527989.1:c.3073G>A	XP_011526291.1:p.Val1025Met
XM_011527988.2:c.3031G>A	XP_011526290.2:p.Val1011Met
XM_011527989.3:c.2995G>A	XP_011526291.2:p.Val999Met
NM_000208.4:c.3034G>A MANE Select	NP_000199.2:p.Val1012Met
NM_001079817.3:c.2998G>A	NP_001073285.1:p.Val1000Met