Canonical Allele Identifier: CA918003248

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs1563030626

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529281del , CM000669.2:g.50529281del	GRCh38
NC_000007.13:g.50596979del , CM000669.1:g.50596979del	GRCh37
NC_000007.12:g.50564473del	NCBI36
NG_008742.1:g.41177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.498del (DDC) MANE Select	ENSP00000403644.2:p.Leu167CysfsTer?
ENST00000357936.9:c.498del (DDC)	ENSP00000350616.5:p.Leu167CysfsTer?
ENST00000380984.4:c.498del (DDC)	ENSP00000370371.4:p.Leu167CysfsTer?
ENST00000426377.5:c.264del (DDC)	ENSP00000395069.1:p.Leu89CysfsTer?
ENST00000430300.5:c.213-1000del (DDC)
ENST00000431062.5:c.435+8580del (DDC)	ENSP00000399184.1:n.435+8580del
ENST00000444124.6:c.498del (DDC)	ENSP00000403644.2:p.Leu167CysfsTer?
ENST00000444733.5:c.384del (DDC)	ENSP00000393724.1:p.Leu129CysfsTer?
ENST00000489162.1:n.297del (DDC)
ENST00000613602.3:c.-11+13238del (FIGNL1)	ENSP00000481751.1:n.-11+13238del
ENST00000615193.4:c.435+8580del (DDC)	ENSP00000484104.1:n.435+8580del
ENST00000617822.4:c.498del (DDC)	ENSP00000478385.1:p.Leu167CysfsTer?
ENST00000622873.4:c.384del (DDC)	ENSP00000479110.1:p.Leu129CysfsTer?
NM_000790.3:c.498del (DDC)	NP_000781.1:p.Leu167CysfsTer?
NM_001082971.1:c.498del (DDC)	NP_001076440.1:p.Leu167CysfsTer?
NM_001242886.1:c.384del (DDC)	NP_001229815.1:p.Leu129CysfsTer?
NM_001242887.1:c.498del (DDC)	NP_001229816.1:p.Leu167CysfsTer?
NM_001242888.1:c.264del (DDC)	NP_001229817.1:p.Leu89CysfsTer?
NM_001242889.1:c.435+8580del (DDC)	NP_001229818.1:n.435+8580del
NM_001242890.1:c.498del (DDC)	NP_001229819.1:p.Leu167CysfsTer?
XM_005271745.3:c.384del (DDC)	XP_005271802.1:p.Leu129CysfsTer?
XM_011515161.1:c.147del (DDC)	XP_011513463.1:p.Leu50CysfsTer?
XM_005271745.4:c.384del (DDC)	XP_005271802.1:p.Leu129CysfsTer?
XM_011515161.2:c.441del (DDC)	XP_011513463.2:p.Leu148CysfsTer?
NM_001082971.2:c.498del (DDC) MANE Select	NP_001076440.2:p.Leu167CysfsTer?
NM_000790.4:c.498del (DDC)	NP_000781.2:p.Leu167CysfsTer?
NM_001242888.2:c.264del (DDC)	NP_001229817.2:p.Leu89CysfsTer?
NM_001242890.2:c.498del (DDC)	NP_001229819.2:p.Leu167CysfsTer?
NM_001242886.2:c.384del (DDC)	NP_001229815.2:p.Leu129CysfsTer?
NM_001242887.2:c.498del (DDC)	NP_001229816.2:p.Leu167CysfsTer?
NM_001242889.2:c.435+8580del (DDC)	NP_001229818.2:n.435+8580del