Canonical Allele Identifier: CA2608692321

Gene: JCAD

Linked Data

• gnomAD v4: 10-30027154-CTCCCTAGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027157_30027165del , CM000672.2:g.30027157_30027165del	GRCh38
NC_000010.10:g.30316086_30316094del , CM000672.1:g.30316086_30316094del	GRCh37
NC_000010.9:g.30356092_30356100del	NCBI36
NG_053080.1:g.93332_93340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375377.2:c.2985_2993del MANE Select	ENSP00000364526.1:p.Pro996_Glu998del
ENST00000375377.1:c.2985_2993del	ENSP00000364526.1:p.Pro996_Glu998del
NM_020848.2:c.2985_2993del	NP_065899.1:p.Pro996_Glu998del
XM_011519608.1:c.2985_2993del	XP_011517910.1:p.Pro996_Glu998del
XM_011519609.1:c.2571_2579del	XP_011517911.1:p.Pro858_Glu860del
XM_011519610.1:c.2571_2579del	XP_011517912.1:p.Pro858_Glu860del
NM_001350001.1:c.2571_2579del	NP_001336930.1:p.Pro858_Glu860del
NM_001350021.1:c.2571_2579del	NP_001336950.1:p.Pro858_Glu860del
NM_001350022.1:c.2985_2993del	NP_001336951.1:p.Pro996_Glu998del
NM_020848.3:c.2985_2993del	NP_065899.1:p.Pro996_Glu998del
NM_020848.4:c.2985_2993del MANE Select	NP_065899.1:p.Pro996_Glu998del
NM_001350001.2:c.2571_2579del	NP_001336930.1:p.Pro858_Glu860del
NM_001350021.2:c.2571_2579del	NP_001336950.1:p.Pro858_Glu860del
NM_001350022.2:c.2985_2993del	NP_001336951.1:p.Pro996_Glu998del