Canonical Allele Identifier: CA403668789

Gene: INSR

Linked Data

• gnomAD v4: 19-7117325-G-T
• MyVariant Identifiers: chr19:g.7117336G>T (hg19) ; chr19:g.7117325G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3880C>A MANE Select	ENSP00000303830.4:p.Leu1294Met
ENST00000302850.9:c.3880C>A	ENSP00000303830.4:p.Leu1294Met
ENST00000341500.9:c.3844C>A	ENSP00000342838.4:p.Leu1282Met
NM_000208.2:c.3880C>A	NP_000199.2:p.Leu1294Met
NM_000208.3:c.3880C>A	NP_000199.2:p.Leu1294Met
NM_001079817.1:c.3844C>A	NP_001073285.1:p.Leu1282Met
NM_001079817.2:c.3844C>A	NP_001073285.1:p.Leu1282Met
XM_011527988.1:c.3955C>A	XP_011526290.1:p.Leu1319Met
XM_011527989.1:c.3919C>A	XP_011526291.1:p.Leu1307Met
XM_011527988.2:c.3877C>A	XP_011526290.2:p.Leu1293Met
XM_011527989.3:c.3841C>A	XP_011526291.2:p.Leu1281Met
NM_000208.4:c.3880C>A MANE Select	NP_000199.2:p.Leu1294Met
NM_001079817.3:c.3844C>A	NP_001073285.1:p.Leu1282Met