Canonical Allele Identifier: CA9135344

Gene: INSR

Linked Data

• ClinVar Variation Id: 723728
• ClinVar RCV Id: RCV000897527 ; RCV004531010
• dbSNP Id: rs141582849
• ExAC: 19:7125378 C / T
• gnomAD v2: 19-7125378-C-T
• gnomAD v3: 19-7125367-C-T
• gnomAD v4: 19-7125367-C-T
• MyVariant Identifiers: chr19:g.7125378C>T (hg19) ; chr19:g.7125367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125367C>T , CM000681.2:g.7125367C>T	GRCh38
NC_000019.9:g.7125378C>T , CM000681.1:g.7125378C>T	GRCh37
NC_000019.8:g.7076378C>T	NCBI36
NG_008852.2:g.173634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3174G>A MANE Select	ENSP00000303830.4:p.Thr1058=
ENST00000302850.9:c.3174G>A	ENSP00000303830.4:p.Thr1058=
ENST00000341500.9:c.3138G>A	ENSP00000342838.4:p.Thr1046=
ENST00000593970.1:n.20G>A
NM_000208.2:c.3174G>A	NP_000199.2:p.Thr1058=
NM_000208.3:c.3174G>A	NP_000199.2:p.Thr1058=
NM_001079817.1:c.3138G>A	NP_001073285.1:p.Thr1046=
NM_001079817.2:c.3138G>A	NP_001073285.1:p.Thr1046=
XM_011527988.1:c.3249G>A	XP_011526290.1:p.Thr1083=
XM_011527989.1:c.3213G>A	XP_011526291.1:p.Thr1071=
XM_011527988.2:c.3171G>A	XP_011526290.2:p.Thr1057=
XM_011527989.3:c.3135G>A	XP_011526291.2:p.Thr1045=
NM_000208.4:c.3174G>A MANE Select	NP_000199.2:p.Thr1058=
NM_001079817.3:c.3138G>A	NP_001073285.1:p.Thr1046=