Canonical Allele Identifier: CA10605204

Gene: JCAD

Linked Data

• ClinVar Variation Id: 285691
• ClinVar RCV Id: RCV000394510
• dbSNP Id: rs886043177
• COSMIC: COSM4746879
• MyVariant Identifiers: chr10:g.30315704del (hg19) ; chr10:g.30026775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30026780del , CM000672.2:g.30026780del	GRCh38
NC_000010.10:g.30315709del , CM000672.1:g.30315709del	GRCh37
NC_000010.9:g.30355715del	NCBI36
NG_053080.1:g.93720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375377.2:c.3373del MANE Select	ENSP00000364526.1:p.Gln1125ArgfsTer?
ENST00000375377.1:c.3373del	ENSP00000364526.1:p.Gln1125ArgfsTer?
NM_020848.2:c.3373del	NP_065899.1:p.Gln1125ArgfsTer?
XM_011519608.1:c.3373del	XP_011517910.1:p.Gln1125ArgfsTer?
XM_011519609.1:c.2959del	XP_011517911.1:p.Gln987ArgfsTer?
XM_011519610.1:c.2959del	XP_011517912.1:p.Gln987ArgfsTer?
NM_001350001.1:c.2959del	NP_001336930.1:p.Gln987ArgfsTer?
NM_001350021.1:c.2959del	NP_001336950.1:p.Gln987ArgfsTer?
NM_001350022.1:c.3373del	NP_001336951.1:p.Gln1125ArgfsTer?
NM_020848.3:c.3373del	NP_065899.1:p.Gln1125ArgfsTer?
NM_020848.4:c.3373del MANE Select	NP_065899.1:p.Gln1125ArgfsTer?
NM_001350001.2:c.2959del	NP_001336930.1:p.Gln987ArgfsTer?
NM_001350021.2:c.2959del	NP_001336950.1:p.Gln987ArgfsTer?
NM_001350022.2:c.3373del	NP_001336951.1:p.Gln1125ArgfsTer?