Canonical Allele Identifier: CA663642553

Gene: JCAD

Linked Data

• dbSNP Id: rs1464169076
• MyVariant Identifiers: chr10:g.30316080_30316081insGGC (hg19) ; chr10:g.30027151_30027152insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027152_30027154dup , CM000672.2:g.30027152_30027154dup	GRCh38
NC_000010.10:g.30316081_30316083dup , CM000672.1:g.30316081_30316083dup	GRCh37
NC_000010.9:g.30356087_30356089dup	NCBI36
NG_053080.1:g.93341_93343dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375377.2:c.2994_2996dup MANE Select	ENSP00000364526.1:p.Pro999_Gln1000insPro
ENST00000375377.1:c.2994_2996dup	ENSP00000364526.1:p.Pro999_Gln1000insPro
NM_020848.2:c.2994_2996dup	NP_065899.1:p.Pro999_Gln1000insPro
XM_011519608.1:c.2994_2996dup	XP_011517910.1:p.Pro999_Gln1000insPro
XM_011519609.1:c.2580_2582dup	XP_011517911.1:p.Pro861_Gln862insPro
XM_011519610.1:c.2580_2582dup	XP_011517912.1:p.Pro861_Gln862insPro
NM_001350001.1:c.2580_2582dup	NP_001336930.1:p.Pro861_Gln862insPro
NM_001350021.1:c.2580_2582dup	NP_001336950.1:p.Pro861_Gln862insPro
NM_001350022.1:c.2994_2996dup	NP_001336951.1:p.Pro999_Gln1000insPro
NM_020848.3:c.2994_2996dup	NP_065899.1:p.Pro999_Gln1000insPro
NM_020848.4:c.2994_2996dup MANE Select	NP_065899.1:p.Pro999_Gln1000insPro
NM_001350001.2:c.2580_2582dup	NP_001336930.1:p.Pro861_Gln862insPro
NM_001350021.2:c.2580_2582dup	NP_001336950.1:p.Pro861_Gln862insPro
NM_001350022.2:c.2994_2996dup	NP_001336951.1:p.Pro999_Gln1000insPro