Canonical Allele Identifier: CA9135739

Gene: INSR

Linked Data

• ClinVar Variation Id: 439832
• ClinVar RCV Id: RCV001730699 ; RCV001662510 ; RCV001730700
• dbSNP Id: rs3815902
• ExAC: 19:7166138 G / A
• gnomAD v2: 19-7166138-G-A
• gnomAD v3: 19-7166127-G-A
• gnomAD v4: 19-7166127-G-A
• MyVariant Identifiers: chr19:g.7166138G>A (hg19) ; chr19:g.7166127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7166127G>A , CM000681.2:g.7166127G>A	GRCh38
NC_000019.9:g.7166138G>A , CM000681.1:g.7166138G>A	GRCh37
NC_000019.8:g.7117138G>A	NCBI36
NG_008852.2:g.132874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1861+27C>T MANE Select	ENSP00000303830.4:n.1861+27C>T
ENST00000302850.9:c.1861+27C>T	ENSP00000303830.4:n.1861+27C>T
ENST00000341500.9:c.1861+27C>T	ENSP00000342838.4:n.1861+27C>T
ENST00000598216.1:n.1836+27C>T
ENST00000600492.1:c.262+27C>T	ENSP00000473170.1:n.262+27C>T
NM_000208.2:c.1861+27C>T	NP_000199.2:n.1861+27C>T
NM_000208.3:c.1861+27C>T	NP_000199.2:n.1861+27C>T
NM_001079817.1:c.1861+27C>T	NP_001073285.1:n.1861+27C>T
NM_001079817.2:c.1861+27C>T	NP_001073285.1:n.1861+27C>T
XM_011527988.1:c.1939+27C>T	XP_011526290.1:n.1939+27C>T
XM_011527989.1:c.1939+27C>T	XP_011526291.1:n.1939+27C>T
XM_011527988.2:c.1861+27C>T	XP_011526290.2:n.1861+27C>T
XM_011527989.3:c.1861+27C>T	XP_011526291.2:n.1861+27C>T
NM_000208.4:c.1861+27C>T MANE Select	NP_000199.2:n.1861+27C>T
NM_001079817.3:c.1861+27C>T	NP_001073285.1:n.1861+27C>T