Canonical Allele Identifier: CA9135125

Gene: INSR

Linked Data

• dbSNP Id: rs754482816
• ExAC: 19:7117336 G / C
• gnomAD v2: 19-7117336-G-C
• gnomAD v4: 19-7117325-G-C
• MyVariant Identifiers: chr19:g.7117336G>C (hg19) ; chr19:g.7117325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117325G>C , CM000681.2:g.7117325G>C	GRCh38
NC_000019.9:g.7117336G>C , CM000681.1:g.7117336G>C	GRCh37
NC_000019.8:g.7068336G>C	NCBI36
NG_008852.2:g.181676C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3880C>G MANE Select	ENSP00000303830.4:p.Leu1294Val
ENST00000302850.9:c.3880C>G	ENSP00000303830.4:p.Leu1294Val
ENST00000341500.9:c.3844C>G	ENSP00000342838.4:p.Leu1282Val
NM_000208.2:c.3880C>G	NP_000199.2:p.Leu1294Val
NM_000208.3:c.3880C>G	NP_000199.2:p.Leu1294Val
NM_001079817.1:c.3844C>G	NP_001073285.1:p.Leu1282Val
NM_001079817.2:c.3844C>G	NP_001073285.1:p.Leu1282Val
XM_011527988.1:c.3955C>G	XP_011526290.1:p.Leu1319Val
XM_011527989.1:c.3919C>G	XP_011526291.1:p.Leu1307Val
XM_011527988.2:c.3877C>G	XP_011526290.2:p.Leu1293Val
XM_011527989.3:c.3841C>G	XP_011526291.2:p.Leu1281Val
NM_000208.4:c.3880C>G MANE Select	NP_000199.2:p.Leu1294Val
NM_001079817.3:c.3844C>G	NP_001073285.1:p.Leu1282Val