Canonical Allele Identifier: CA253125

Gene: STRC

Linked Data

• ClinVar Variation Id: 4343
• ClinVar RCV Id: RCV000004591
• dbSNP Id: rs786200882
• gnomAD v4: 15-43611297-A-AG
• MyVariant Identifiers: chr15:g.43903496dupG (hg19) ; chr15:g.43903495_43903496insG (hg19) ; chr15:g.43611298dupG (hg38) ; chr15:g.43611297_43611298insG (hg38)
• PubMed: PMID:11687802

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43611298dup , CM000677.2:g.43611298dup	GRCh38
NC_000015.9:g.43903496dup , CM000677.1:g.43903496dup	GRCh37
NC_000015.8:g.41690788dup	NCBI36
NG_011636.1:g.12503dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.3156dup MANE Select	ENSP00000401513.2:p.Cys1053LeufsTer20
ENST00000428650.5:c.*188dup	ENSP00000415991.1:n.*188dup
ENST00000440125.5:c.*1215+201dup	ENSP00000394866.1:n.*1215+201dup
ENST00000448437.6:n.383dup
ENST00000450892.6:c.3156dup	ENSP00000401513.2:p.Cys1053LeufsTer20
ENST00000455136.5:c.529+201dup
ENST00000470279.1:n.470dup
ENST00000471703.5:n.295dup
ENST00000483250.5:n.467dup
ENST00000485556.5:n.526dup
ENST00000541030.5:c.1104+201dup	ENSP00000440413.1:n.1104+201dup
NM_153700.2:c.3156dup MANE Select	NP_714544.1:p.Cys1053LeufsTer20
XM_011521277.1:c.3645dup	XP_011519579.1:p.Cys1216LeufsTer20
XM_011521278.1:c.3258dup	XP_011519580.1:p.Cys1087LeufsTer20
XM_011521279.1:c.3258dup	XP_011519581.1:p.Cys1087LeufsTer20