Canonical Allele Identifier: CA10629327

Gene: DDC

Linked Data

• ClinVar Variation Id: 360446
• ClinVar RCV Id: RCV000369935
• dbSNP Id: rs3837091
• gnomAD v2: 7-50628739-CCTCT-C
• gnomAD v3: 7-50561042-CCTCT-C
• gnomAD v4: 7-50561042-CCTCT-C
• COSMIC: COSN20104243 ; COSN20104244 ; COSN20104245
• MyVariant Identifiers: chr7:g.50628740_50628743del (hg19) ; chr7:g.50561043_50561046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50561050_50561053del , CM000669.2:g.50561050_50561053del	GRCh38
NC_000007.13:g.50628747_50628750del , CM000669.1:g.50628747_50628750del	GRCh37
NC_000007.12:g.50596241_50596244del	NCBI36
NG_008742.1:g.9412_9415del

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.-29+4239_-29+4242del MANE Select	ENSP00000403644.2:n.-29+4239_-29+4242del
ENST00000357936.9:c.-61_-58del	ENSP00000350616.5:n.-61_-58del
ENST00000420203.1:c.-29+2949_-29+2952del	ENSP00000408626.1:n.-29+2949_-29+2952del
ENST00000426377.5:c.-61_-58del	ENSP00000395069.1:n.-61_-58del
ENST00000444124.6:c.-29+4239_-29+4242del	ENSP00000403644.2:n.-29+4239_-29+4242del
ENST00000444733.5:c.-61_-58del	ENSP00000393724.1:n.-61_-58del
ENST00000615193.4:c.-61_-58del	ENSP00000484104.1:n.-61_-58del
ENST00000617822.4:c.-61_-58del	ENSP00000478385.1:n.-61_-58del
ENST00000622873.4:c.-61_-58del	ENSP00000479110.1:n.-61_-58del
NM_000790.3:c.-61_-58del	NP_000781.1:n.-61_-58del
NM_001082971.1:c.-29+4239_-29+4242del	NP_001076440.1:n.-29+4239_-29+4242del
NM_001242886.1:c.-61_-58del	NP_001229815.1:n.-61_-58del
NM_001242887.1:c.-61_-58del	NP_001229816.1:n.-61_-58del
NM_001242888.1:c.-61_-58del	NP_001229817.1:n.-61_-58del
NM_001242889.1:c.-61_-58del	NP_001229818.1:n.-61_-58del
NM_001242890.1:c.-61_-58del	NP_001229819.1:n.-61_-58del
XM_005271745.3:c.-29+4239_-29+4242del	XP_005271802.1:n.-29+4239_-29+4242del
XM_005271745.4:c.-29+4239_-29+4242del	XP_005271802.1:n.-29+4239_-29+4242del
NM_001082971.2:c.-29+4239_-29+4242del MANE Select	NP_001076440.2:n.-29+4239_-29+4242del
NM_000790.4:c.-61_-58del	NP_000781.2:n.-61_-58del
NM_001242888.2:c.-61_-58del	NP_001229817.2:n.-61_-58del
NM_001242890.2:c.-61_-58del	NP_001229819.2:n.-61_-58del
NM_001242886.2:c.-61_-58del	NP_001229815.2:n.-61_-58del
NM_001242887.2:c.-61_-58del	NP_001229816.2:n.-61_-58del
NM_001242889.2:c.-61_-58del	NP_001229818.2:n.-61_-58del