Canonical Allele Identifier: CA9135451

Gene: INSR

Linked Data

• ClinVar Variation Id: 739582
• ClinVar RCV Id: RCV000915560 ; RCV001129563 ; RCV001129564 ; RCV001129565 ; RCV001818861 ; RCV003884803
• dbSNP Id: rs111502197
• ExAC: 19:7132218 C / T
• gnomAD v2: 19-7132218-C-T
• gnomAD v3: 19-7132207-C-T
• gnomAD v4: 19-7132207-C-T
• MyVariant Identifiers: chr19:g.7132218C>T (hg19) ; chr19:g.7132207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132207C>T , CM000681.2:g.7132207C>T	GRCh38
NC_000019.9:g.7132218C>T , CM000681.1:g.7132218C>T	GRCh37
NC_000019.8:g.7083218C>T	NCBI36
NG_008852.2:g.166794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2793G>A MANE Select	ENSP00000303830.4:p.Ala931=
ENST00000302850.9:c.2793G>A	ENSP00000303830.4:p.Ala931=
ENST00000341500.9:c.2757G>A	ENSP00000342838.4:p.Ala919=
NM_000208.2:c.2793G>A	NP_000199.2:p.Ala931=
NM_000208.3:c.2793G>A	NP_000199.2:p.Ala931=
NM_001079817.1:c.2757G>A	NP_001073285.1:p.Ala919=
NM_001079817.2:c.2757G>A	NP_001073285.1:p.Ala919=
XM_011527988.1:c.2871G>A	XP_011526290.1:p.Ala957=
XM_011527989.1:c.2835G>A	XP_011526291.1:p.Ala945=
XM_011527988.2:c.2793G>A	XP_011526290.2:p.Ala931=
XM_011527989.3:c.2757G>A	XP_011526291.2:p.Ala919=
NM_000208.4:c.2793G>A MANE Select	NP_000199.2:p.Ala931=
NM_001079817.3:c.2757G>A	NP_001073285.1:p.Ala919=