Canonical Allele Identifier: CA2578891622

Gene: DDC FIGNL1

Linked Data

• ClinVar Variation Id: 2033490
• ClinVar RCV Id: RCV002872415
• gnomAD v4: 7-50529340-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529342_50529343del , CM000669.2:g.50529342_50529343del	GRCh38
NC_000007.13:g.50597040_50597041del , CM000669.1:g.50597040_50597041del	GRCh37
NC_000007.12:g.50564534_50564535del	NCBI36
NG_008742.1:g.41115_41116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.436_437del (DDC)
ENST00000357936.9:c.436_437del (DDC)
ENST00000380984.4:c.436_437del (DDC)
ENST00000426377.5:c.202_203del (DDC)
ENST00000430300.5:c.213-1062_213-1061del (DDC)
ENST00000431062.5:c.435+8518_435+8519del (DDC)	ENSP00000399184.1:n.435+8518_435+8519del
ENST00000444124.6:c.436_437del (DDC)
ENST00000444733.5:c.322_323del (DDC)
ENST00000489162.1:n.235_236del (DDC)
ENST00000613602.3:c.-11+13176_-11+13177del (FIGNL1)	ENSP00000481751.1:n.-11+13176_-11+13177del
ENST00000615193.4:c.435+8518_435+8519del (DDC)	ENSP00000484104.1:n.435+8518_435+8519del
ENST00000617822.4:c.436_437del (DDC)
ENST00000622873.4:c.322_323del (DDC)
NM_000790.3:c.436_437del (DDC)
NM_001082971.1:c.436_437del (DDC)
NM_001242886.1:c.322_323del (DDC)
NM_001242887.1:c.436_437del (DDC)
NM_001242888.1:c.202_203del (DDC)
NM_001242889.1:c.435+8518_435+8519del (DDC)	NP_001229818.1:n.435+8518_435+8519del
NM_001242890.1:c.436_437del (DDC)
XM_005271745.3:c.322_323del (DDC)
XM_011515161.1:c.85_86del (DDC)
XM_005271745.4:c.322_323del (DDC)
XM_011515161.2:c.379_380del (DDC)
NM_001082971.2:c.436_437del (DDC)
NM_000790.4:c.436_437del (DDC)
NM_001242888.2:c.202_203del (DDC)
NM_001242890.2:c.436_437del (DDC)
NM_001242886.2:c.322_323del (DDC)
NM_001242887.2:c.436_437del (DDC)
NM_001242889.2:c.435+8518_435+8519del (DDC)	NP_001229818.2:n.435+8518_435+8519del