Canonical Allele Identifier: CA9135349

Gene: INSR

Linked Data

• ClinVar Variation Id: 281874
• ClinVar RCV Id: RCV000311042 ; RCV001820810
• dbSNP Id: rs748109926
• ExAC: 19:7125394 C / T
• gnomAD v2: 19-7125394-C-T
• gnomAD v3: 19-7125383-C-T
• gnomAD v4: 19-7125383-C-T
• MyVariant Identifiers: chr19:g.7125394C>T (hg19) ; chr19:g.7125383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125383C>T , CM000681.2:g.7125383C>T	GRCh38
NC_000019.9:g.7125394C>T , CM000681.1:g.7125394C>T	GRCh37
NC_000019.8:g.7076394C>T	NCBI36
NG_008852.2:g.173618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3158G>A MANE Select	ENSP00000303830.4:p.Arg1053His
ENST00000302850.9:c.3158G>A	ENSP00000303830.4:p.Arg1053His
ENST00000341500.9:c.3122G>A	ENSP00000342838.4:p.Arg1041His
ENST00000593970.1:n.4G>A
NM_000208.2:c.3158G>A	NP_000199.2:p.Arg1053His
NM_000208.3:c.3158G>A	NP_000199.2:p.Arg1053His
NM_001079817.1:c.3122G>A	NP_001073285.1:p.Arg1041His
NM_001079817.2:c.3122G>A	NP_001073285.1:p.Arg1041His
XM_011527988.1:c.3233G>A	XP_011526290.1:p.Arg1078His
XM_011527989.1:c.3197G>A	XP_011526291.1:p.Arg1066His
XM_011527988.2:c.3155G>A	XP_011526290.2:p.Arg1052His
XM_011527989.3:c.3119G>A	XP_011526291.2:p.Arg1040His
NM_000208.4:c.3158G>A MANE Select	NP_000199.2:p.Arg1053His
NM_001079817.3:c.3122G>A	NP_001073285.1:p.Arg1041His