Canonical Allele Identifier: CA9135801

Gene: INSR

Linked Data

• ClinVar Variation Id: 439836
• ClinVar RCV Id: RCV000508527 ; RCV001712468
• dbSNP Id: rs9676400
• ExAC: 19:7167956 G / A
• gnomAD v2: 19-7167956-G-A
• gnomAD v3: 19-7167945-G-A
• gnomAD v4: 19-7167945-G-A
• MyVariant Identifiers: chr19:g.7167956G>A (hg19) ; chr19:g.7167945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7167945G>A , CM000681.2:g.7167945G>A	GRCh38
NC_000019.9:g.7167956G>A , CM000681.1:g.7167956G>A	GRCh37
NC_000019.8:g.7118956G>A	NCBI36
NG_008852.2:g.131056C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.1610+23C>T MANE Select	ENSP00000303830.4:n.1610+23C>T
ENST00000302850.9:c.1610+23C>T	ENSP00000303830.4:n.1610+23C>T
ENST00000341500.9:c.1610+23C>T	ENSP00000342838.4:n.1610+23C>T
ENST00000598216.1:n.1585+23C>T
ENST00000600492.1:c.11+23C>T	ENSP00000473170.1:n.11+23C>T
NM_000208.2:c.1610+23C>T	NP_000199.2:n.1610+23C>T
NM_000208.3:c.1610+23C>T	NP_000199.2:n.1610+23C>T
NM_001079817.1:c.1610+23C>T	NP_001073285.1:n.1610+23C>T
NM_001079817.2:c.1610+23C>T	NP_001073285.1:n.1610+23C>T
XM_011527988.1:c.1688+23C>T	XP_011526290.1:n.1688+23C>T
XM_011527989.1:c.1688+23C>T	XP_011526291.1:n.1688+23C>T
XM_011527988.2:c.1610+23C>T	XP_011526290.2:n.1610+23C>T
XM_011527989.3:c.1610+23C>T	XP_011526291.2:n.1610+23C>T
NM_000208.4:c.1610+23C>T MANE Select	NP_000199.2:n.1610+23C>T
NM_001079817.3:c.1610+23C>T	NP_001073285.1:n.1610+23C>T