Canonical Allele Identifier: CA9135560

Gene: INSR

Linked Data

• ClinVar Variation Id: 797187
• ClinVar RCV Id: RCV000980629
• dbSNP Id: rs529869522
• ExAC: 19:7142993 C / T
• gnomAD v2: 19-7142993-C-T
• gnomAD v3: 19-7142982-C-T
• gnomAD v4: 19-7142982-C-T
• MyVariant Identifiers: chr19:g.7142993C>T (hg19) ; chr19:g.7142982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7142982C>T , CM000681.2:g.7142982C>T	GRCh38
NC_000019.9:g.7142993C>T , CM000681.1:g.7142993C>T	GRCh37
NC_000019.8:g.7093993C>T	NCBI36
NG_008852.2:g.156019G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2376G>A MANE Select	ENSP00000303830.4:p.Pro792=
ENST00000302850.9:c.2376G>A	ENSP00000303830.4:p.Pro792=
ENST00000341500.9:c.2340G>A	ENSP00000342838.4:p.Pro780=
ENST00000597211.1:n.59G>A
NM_000208.2:c.2376G>A	NP_000199.2:p.Pro792=
NM_000208.3:c.2376G>A	NP_000199.2:p.Pro792=
NM_001079817.1:c.2340G>A	NP_001073285.1:p.Pro780=
NM_001079817.2:c.2340G>A	NP_001073285.1:p.Pro780=
XM_011527988.1:c.2454G>A	XP_011526290.1:p.Pro818=
XM_011527989.1:c.2418G>A	XP_011526291.1:p.Pro806=
XM_011527988.2:c.2376G>A	XP_011526290.2:p.Pro792=
XM_011527989.3:c.2340G>A	XP_011526291.2:p.Pro780=
NM_000208.4:c.2376G>A MANE Select	NP_000199.2:p.Pro792=
NM_001079817.3:c.2340G>A	NP_001073285.1:p.Pro780=