Canonical Allele Identifier: CA403668742

Gene: INSR

Linked Data

• gnomAD v4: 19-7117304-C-T
• MyVariant Identifiers: chr19:g.7117315C>T (hg19) ; chr19:g.7117304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117304C>T , CM000681.2:g.7117304C>T	GRCh38
NC_000019.9:g.7117315C>T , CM000681.1:g.7117315C>T	GRCh37
NC_000019.8:g.7068315C>T	NCBI36
NG_008852.2:g.181697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3901G>A MANE Select	ENSP00000303830.4:p.Val1301Met
ENST00000302850.9:c.3901G>A	ENSP00000303830.4:p.Val1301Met
ENST00000341500.9:c.3865G>A	ENSP00000342838.4:p.Val1289Met
NM_000208.2:c.3901G>A	NP_000199.2:p.Val1301Met
NM_000208.3:c.3901G>A	NP_000199.2:p.Val1301Met
NM_001079817.1:c.3865G>A	NP_001073285.1:p.Val1289Met
NM_001079817.2:c.3865G>A	NP_001073285.1:p.Val1289Met
XM_011527988.1:c.3976G>A	XP_011526290.1:p.Val1326Met
XM_011527989.1:c.3940G>A	XP_011526291.1:p.Val1314Met
XM_011527988.2:c.3898G>A	XP_011526290.2:p.Val1300Met
XM_011527989.3:c.3862G>A	XP_011526291.2:p.Val1288Met
NM_000208.4:c.3901G>A MANE Select	NP_000199.2:p.Val1301Met
NM_001079817.3:c.3865G>A	NP_001073285.1:p.Val1289Met