Canonical Allele Identifier: CA124245

Gene: INSR

Linked Data

• ClinVar Variation Id: 14697
• ClinVar RCV Id: RCV000015812 ; RCV002496377
• dbSNP Id: rs121913148
• ExAC: 19:7125493 C / T
• gnomAD v2: 19-7125493-C-T
• gnomAD v3: 19-7125482-C-T
• gnomAD v4: 19-7125482-C-T
• COSMIC: COSM3541184 ; COSM3541185
• MyVariant Identifiers: chr19:g.7125493C>T (hg19) ; chr19:g.7125482C>T (hg38)
• PubMed: PMID:2002058 ; PMID:7042734 ; PMID:27896077

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125482C>T , CM000681.2:g.7125482C>T	GRCh38
NC_000019.9:g.7125493C>T , CM000681.1:g.7125493C>T	GRCh37
NC_000019.8:g.7076493C>T	NCBI36
NG_008852.2:g.173519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3059G>A MANE Select	ENSP00000303830.4:p.Arg1020Gln
ENST00000302850.9:c.3059G>A	ENSP00000303830.4:p.Arg1020Gln
ENST00000341500.9:c.3023G>A	ENSP00000342838.4:p.Arg1008Gln
NM_000208.2:c.3059G>A	NP_000199.2:p.Arg1020Gln
NM_000208.3:c.3059G>A	NP_000199.2:p.Arg1020Gln
NM_001079817.1:c.3023G>A	NP_001073285.1:p.Arg1008Gln
NM_001079817.2:c.3023G>A	NP_001073285.1:p.Arg1008Gln
XM_011527988.1:c.3134G>A	XP_011526290.1:p.Arg1045Gln
XM_011527989.1:c.3098G>A	XP_011526291.1:p.Arg1033Gln
XM_011527988.2:c.3056G>A	XP_011526290.2:p.Arg1019Gln
XM_011527989.3:c.3020G>A	XP_011526291.2:p.Arg1007Gln
NM_000208.4:c.3059G>A MANE Select	NP_000199.2:p.Arg1020Gln
NM_001079817.3:c.3023G>A	NP_001073285.1:p.Arg1008Gln