Canonical Allele Identifier: CA2839977467

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50539888dup , CM000669.2:g.50539888dup GRCh38
NC_000007.13:g.50607586dup , CM000669.1:g.50607586dup GRCh37
NC_000007.12:g.50575080dup NCBI36
NG_008742.1:g.30572dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.315+30dup (DDC) MANE Select ENSP00000403644.2:n.315+30dup
ENST00000357936.9:c.315+30dup (DDC) ENSP00000350616.5:n.315+30dup
ENST00000380984.4:c.315+30dup (DDC) ENSP00000370371.4:n.315+30dup
ENST00000426377.5:c.201+4000dup (DDC) ENSP00000395069.1:n.201+4000dup
ENST00000430300.5:c.212+30dup (DDC)
ENST00000431062.5:c.315+30dup (DDC) ENSP00000399184.1:n.315+30dup
ENST00000444124.6:c.315+30dup (DDC) ENSP00000403644.2:n.315+30dup
ENST00000444733.5:c.202-1906dup (DDC) ENSP00000393724.1:n.202-1906dup
ENST00000489162.1:n.114+30dup (DDC)
ENST00000613602.3:c.-11+2633dup (FIGNL1) ENSP00000481751.1:n.-11+2633dup
ENST00000615193.4:c.315+30dup (DDC) ENSP00000484104.1:n.315+30dup
ENST00000617822.4:c.315+30dup (DDC) ENSP00000478385.1:n.315+30dup
ENST00000622873.4:c.202-1906dup (DDC) ENSP00000479110.1:n.202-1906dup
NM_000790.3:c.315+30dup (DDC) NP_000781.1:n.315+30dup
NM_001082971.1:c.315+30dup (DDC) NP_001076440.1:n.315+30dup
NM_001242886.1:c.202-1906dup (DDC) NP_001229815.1:n.202-1906dup
NM_001242887.1:c.315+30dup (DDC) NP_001229816.1:n.315+30dup
NM_001242888.1:c.201+4000dup (DDC) NP_001229817.1:n.201+4000dup
NM_001242889.1:c.315+30dup (DDC) NP_001229818.1:n.315+30dup
NM_001242890.1:c.315+30dup (DDC) NP_001229819.1:n.315+30dup
NR_033845.1:n.236dup (DDC-AS1)
XM_005271745.3:c.202-1906dup (DDC) XP_005271802.1:n.202-1906dup
XM_005271745.4:c.202-1906dup (DDC) XP_005271802.1:n.202-1906dup
NM_001082971.2:c.315+30dup (DDC) MANE Select NP_001076440.2:n.315+30dup
NM_000790.4:c.315+30dup (DDC) NP_000781.2:n.315+30dup
NM_001242888.2:c.201+4000dup (DDC) NP_001229817.2:n.201+4000dup
NM_001242890.2:c.315+30dup (DDC) NP_001229819.2:n.315+30dup
NM_001242886.2:c.202-1906dup (DDC) NP_001229815.2:n.202-1906dup
NM_001242887.2:c.315+30dup (DDC) NP_001229816.2:n.315+30dup
NM_001242889.2:c.315+30dup (DDC) NP_001229818.2:n.315+30dup