Canonical Allele Identifier: CA2608692320

Gene: JCAD

Linked Data

• gnomAD v4: 10-30027149-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027153del , CM000672.2:g.30027153del	GRCh38
NC_000010.10:g.30316082del , CM000672.1:g.30316082del	GRCh37
NC_000010.9:g.30356088del	NCBI36
NG_053080.1:g.93345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375377.2:c.2998del MANE Select	ENSP00000364526.1:p.Gln1000ArgfsTer13
ENST00000375377.1:c.2998del	ENSP00000364526.1:p.Gln1000ArgfsTer13
NM_020848.2:c.2998del	NP_065899.1:p.Gln1000ArgfsTer13
XM_011519608.1:c.2998del	XP_011517910.1:p.Gln1000ArgfsTer13
XM_011519609.1:c.2584del	XP_011517911.1:p.Gln862ArgfsTer13
XM_011519610.1:c.2584del	XP_011517912.1:p.Gln862ArgfsTer13
NM_001350001.1:c.2584del	NP_001336930.1:p.Gln862ArgfsTer13
NM_001350021.1:c.2584del	NP_001336950.1:p.Gln862ArgfsTer13
NM_001350022.1:c.2998del	NP_001336951.1:p.Gln1000ArgfsTer13
NM_020848.3:c.2998del	NP_065899.1:p.Gln1000ArgfsTer13
NM_020848.4:c.2998del MANE Select	NP_065899.1:p.Gln1000ArgfsTer13
NM_001350001.2:c.2584del	NP_001336930.1:p.Gln862ArgfsTer13
NM_001350021.2:c.2584del	NP_001336950.1:p.Gln862ArgfsTer13
NM_001350022.2:c.2998del	NP_001336951.1:p.Gln1000ArgfsTer13