Canonical Allele Identifier: CA2682813284

Gene: DDC

Linked Data

• gnomAD v4: 7-50543883-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50543887del , CM000669.2:g.50543887del	GRCh38
NC_000007.13:g.50611585del , CM000669.1:g.50611585del	GRCh37
NC_000007.12:g.50579079del	NCBI36
NG_008742.1:g.26573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.201+1del
ENST00000357936.9:c.201+1del
ENST00000380984.4:c.201+1del
ENST00000426377.5:c.201+1del
ENST00000430300.5:c.98+1del
ENST00000431062.5:c.201+1del
ENST00000444124.6:c.201+1del
ENST00000444733.5:c.201+1del
ENST00000615193.4:c.201+1del
ENST00000617822.4:c.201+1del
ENST00000622873.4:c.201+1del
NM_000790.3:c.201+1del
NM_001082971.1:c.201+1del
NM_001242886.1:c.201+1del
NM_001242887.1:c.201+1del
NM_001242888.1:c.201+1del
NM_001242889.1:c.201+1del
NM_001242890.1:c.201+1del
XM_005271745.3:c.201+1del
XM_005271745.4:c.201+1del
NM_001082971.2:c.201+1del
NM_000790.4:c.201+1del
NM_001242888.2:c.201+1del
NM_001242890.2:c.201+1del
NM_001242886.2:c.201+1del
NM_001242887.2:c.201+1del
NM_001242889.2:c.201+1del