Canonical Allele Identifier: CA9135121

Gene: INSR

Linked Data

• ClinVar Variation Id: 2085323
• ClinVar RCV Id: RCV003005004
• dbSNP Id: rs368279043
• ExAC: 19:7117298 G / A
• gnomAD v2: 19-7117298-G-A
• gnomAD v3: 19-7117287-G-A
• gnomAD v4: 19-7117287-G-A
• MyVariant Identifiers: chr19:g.7117298G>A (hg19) ; chr19:g.7117287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117287G>A , CM000681.2:g.7117287G>A	GRCh38
NC_000019.9:g.7117298G>A , CM000681.1:g.7117298G>A	GRCh37
NC_000019.8:g.7068298G>A	NCBI36
NG_008852.2:g.181714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3918C>T MANE Select	ENSP00000303830.4:p.Ser1306=
ENST00000302850.9:c.3918C>T	ENSP00000303830.4:p.Ser1306=
ENST00000341500.9:c.3882C>T	ENSP00000342838.4:p.Ser1294=
NM_000208.2:c.3918C>T	NP_000199.2:p.Ser1306=
NM_000208.3:c.3918C>T	NP_000199.2:p.Ser1306=
NM_001079817.1:c.3882C>T	NP_001073285.1:p.Ser1294=
NM_001079817.2:c.3882C>T	NP_001073285.1:p.Ser1294=
XM_011527988.1:c.3993C>T	XP_011526290.1:p.Ser1331=
XM_011527989.1:c.3957C>T	XP_011526291.1:p.Ser1319=
XM_011527988.2:c.3915C>T	XP_011526290.2:p.Ser1305=
XM_011527989.3:c.3879C>T	XP_011526291.2:p.Ser1293=
NM_000208.4:c.3918C>T MANE Select	NP_000199.2:p.Ser1306=
NM_001079817.3:c.3882C>T	NP_001073285.1:p.Ser1294=