Canonical Allele Identifier: CA403668542

Gene: INSR

Linked Data

• COSMIC: COSM4914701 ; COSM4914702
• MyVariant Identifiers: chr19:g.7117231G>T (hg19) ; chr19:g.7117220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117220G>T , CM000681.2:g.7117220G>T	GRCh38
NC_000019.9:g.7117231G>T , CM000681.1:g.7117231G>T	GRCh37
NC_000019.8:g.7068231G>T	NCBI36
NG_008852.2:g.181781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3985C>A MANE Select	ENSP00000303830.4:p.Leu1329Met
ENST00000302850.9:c.3985C>A	ENSP00000303830.4:p.Leu1329Met
ENST00000341500.9:c.3949C>A	ENSP00000342838.4:p.Leu1317Met
NM_000208.2:c.3985C>A	NP_000199.2:p.Leu1329Met
NM_000208.3:c.3985C>A	NP_000199.2:p.Leu1329Met
NM_001079817.1:c.3949C>A	NP_001073285.1:p.Leu1317Met
NM_001079817.2:c.3949C>A	NP_001073285.1:p.Leu1317Met
XM_011527988.1:c.4060C>A	XP_011526290.1:p.Leu1354Met
XM_011527989.1:c.4024C>A	XP_011526291.1:p.Leu1342Met
XM_011527988.2:c.3982C>A	XP_011526290.2:p.Leu1328Met
XM_011527989.3:c.3946C>A	XP_011526291.2:p.Leu1316Met
NM_000208.4:c.3985C>A MANE Select	NP_000199.2:p.Leu1329Met
NM_001079817.3:c.3949C>A	NP_001073285.1:p.Leu1317Met