Canonical Allele Identifier: CA1139771375

Gene: DDC FIGNL1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50470150dup , CM000669.2:g.50470150dup	GRCh38
NC_000007.13:g.50537848dup , CM000669.1:g.50537848dup	GRCh37
NC_000007.12:g.50505342dup	NCBI36
NG_008742.1:g.100307dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1063dup (DDC) MANE Select	ENSP00000403644.2:p.Arg355LysfsTer13
ENST00000357936.9:c.1063dup (DDC)	ENSP00000350616.5:p.Arg355LysfsTer13
ENST00000426377.5:c.829dup (DDC)	ENSP00000395069.1:p.Arg277LysfsTer13
ENST00000430300.5:c.705dup (DDC)
ENST00000431062.5:c.784dup (DDC)	ENSP00000399184.1:p.Arg262LysfsTer13
ENST00000444124.6:c.1063dup (DDC)	ENSP00000403644.2:p.Arg355LysfsTer13
ENST00000444733.5:c.*164dup (DDC)	ENSP00000393724.1:n.*164dup
ENST00000494914.1:n.219dup (DDC)
ENST00000613602.3:c.-10-22853dup (FIGNL1)	ENSP00000481751.1:n.-10-22853dup
ENST00000615193.4:c.784dup (DDC)	ENSP00000484104.1:p.Arg262LysfsTer13
ENST00000617822.4:c.919dup (DDC)	ENSP00000478385.1:p.Arg307LysfsTer13
ENST00000622873.4:c.949dup (DDC)	ENSP00000479110.1:p.Arg317LysfsTer13
NM_000790.3:c.1063dup (DDC)	NP_000781.1:p.Arg355LysfsTer13
NM_001082971.1:c.1063dup (DDC)	NP_001076440.1:p.Arg355LysfsTer13
NM_001242886.1:c.949dup (DDC)	NP_001229815.1:p.Arg317LysfsTer13
NM_001242887.1:c.919dup (DDC)	NP_001229816.1:p.Arg307LysfsTer13
NM_001242888.1:c.829dup (DDC)	NP_001229817.1:p.Arg277LysfsTer13
NM_001242889.1:c.784dup (DDC)	NP_001229818.1:p.Arg262LysfsTer13
XM_005271745.3:c.949dup (DDC)	XP_005271802.1:p.Arg317LysfsTer13
XM_011515161.1:c.712dup (DDC)	XP_011513463.1:p.Arg238LysfsTer13
XM_005271745.4:c.949dup (DDC)	XP_005271802.1:p.Arg317LysfsTer13
XM_011515161.2:c.1006dup (DDC)	XP_011513463.2:p.Arg336LysfsTer13
NM_001082971.2:c.1063dup (DDC) MANE Select	NP_001076440.2:p.Arg355LysfsTer13
NM_000790.4:c.1063dup (DDC)	NP_000781.2:p.Arg355LysfsTer13
NM_001242888.2:c.829dup (DDC)	NP_001229817.2:p.Arg277LysfsTer13
NM_001242886.2:c.949dup (DDC)	NP_001229815.2:p.Arg317LysfsTer13
NM_001242887.2:c.919dup (DDC)	NP_001229816.2:p.Arg307LysfsTer13
NM_001242889.2:c.784dup (DDC)	NP_001229818.2:p.Arg262LysfsTer13