Canonical Allele Identifier: CA403668770

Gene: INSR

Linked Data

• dbSNP Id: rs113527718
• gnomAD v3: 19-7117316-T-A
• gnomAD v4: 19-7117316-T-A
• MyVariant Identifiers: chr19:g.7117327T>A (hg19) ; chr19:g.7117316T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117316T>A , CM000681.2:g.7117316T>A	GRCh38
NC_000019.9:g.7117327T>A , CM000681.1:g.7117327T>A	GRCh37
NC_000019.8:g.7068327T>A	NCBI36
NG_008852.2:g.181685A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3889A>T MANE Select	ENSP00000303830.4:p.Ser1297Cys
ENST00000302850.9:c.3889A>T	ENSP00000303830.4:p.Ser1297Cys
ENST00000341500.9:c.3853A>T	ENSP00000342838.4:p.Ser1285Cys
NM_000208.2:c.3889A>T	NP_000199.2:p.Ser1297Cys
NM_000208.3:c.3889A>T	NP_000199.2:p.Ser1297Cys
NM_001079817.1:c.3853A>T	NP_001073285.1:p.Ser1285Cys
NM_001079817.2:c.3853A>T	NP_001073285.1:p.Ser1285Cys
XM_011527988.1:c.3964A>T	XP_011526290.1:p.Ser1322Cys
XM_011527989.1:c.3928A>T	XP_011526291.1:p.Ser1310Cys
XM_011527988.2:c.3886A>T	XP_011526290.2:p.Ser1296Cys
XM_011527989.3:c.3850A>T	XP_011526291.2:p.Ser1284Cys
NM_000208.4:c.3889A>T MANE Select	NP_000199.2:p.Ser1297Cys
NM_001079817.3:c.3853A>T	NP_001073285.1:p.Ser1285Cys