Canonical Allele Identifier: CA2714498496
Gene: DDC HGNC NCBI

Linked Data

dbSNP Id: rs2153554748

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50560978_50560981dup , CM000669.2:g.50560978_50560981dup GRCh38
NC_000007.13:g.50628675_50628678dup , CM000669.1:g.50628675_50628678dup GRCh37
NC_000007.12:g.50596169_50596172dup NCBI36
NG_008742.1:g.9478_9481dup

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.-29+4305_-29+4308dup MANE Select ENSP00000403644.2:n.-29+4305_-29+4308dup
ENST00000357936.9:c.-29+34_-29+37dup ENSP00000350616.5:n.-29+34_-29+37dup
ENST00000380984.4:c.-29+34_-29+37dup ENSP00000370371.4:n.-29+34_-29+37dup
ENST00000420203.1:c.-29+3015_-29+3018dup ENSP00000408626.1:n.-29+3015_-29+3018dup
ENST00000426377.5:c.-29+34_-29+37dup ENSP00000395069.1:n.-29+34_-29+37dup
ENST00000444124.6:c.-29+4305_-29+4308dup ENSP00000403644.2:n.-29+4305_-29+4308dup
ENST00000444733.5:c.-29+34_-29+37dup ENSP00000393724.1:n.-29+34_-29+37dup
ENST00000615193.4:c.-29+34_-29+37dup ENSP00000484104.1:n.-29+34_-29+37dup
ENST00000617822.4:c.-29+34_-29+37dup ENSP00000478385.1:n.-29+34_-29+37dup
ENST00000622873.4:c.-29+34_-29+37dup ENSP00000479110.1:n.-29+34_-29+37dup
NM_000790.3:c.-29+34_-29+37dup NP_000781.1:n.-29+34_-29+37dup
NM_001082971.1:c.-29+4305_-29+4308dup NP_001076440.1:n.-29+4305_-29+4308dup
NM_001242886.1:c.-29+34_-29+37dup NP_001229815.1:n.-29+34_-29+37dup
NM_001242887.1:c.-29+34_-29+37dup NP_001229816.1:n.-29+34_-29+37dup
NM_001242888.1:c.-29+34_-29+37dup NP_001229817.1:n.-29+34_-29+37dup
NM_001242889.1:c.-29+34_-29+37dup NP_001229818.1:n.-29+34_-29+37dup
NM_001242890.1:c.-29+34_-29+37dup NP_001229819.1:n.-29+34_-29+37dup
XM_005271745.3:c.-29+4305_-29+4308dup XP_005271802.1:n.-29+4305_-29+4308dup
XM_005271745.4:c.-29+4305_-29+4308dup XP_005271802.1:n.-29+4305_-29+4308dup
NM_001082971.2:c.-29+4305_-29+4308dup MANE Select NP_001076440.2:n.-29+4305_-29+4308dup
NM_000790.4:c.-29+34_-29+37dup NP_000781.2:n.-29+34_-29+37dup
NM_001242888.2:c.-29+34_-29+37dup NP_001229817.2:n.-29+34_-29+37dup
NM_001242890.2:c.-29+34_-29+37dup NP_001229819.2:n.-29+34_-29+37dup
NM_001242886.2:c.-29+34_-29+37dup NP_001229815.2:n.-29+34_-29+37dup
NM_001242887.2:c.-29+34_-29+37dup NP_001229816.2:n.-29+34_-29+37dup
NM_001242889.2:c.-29+34_-29+37dup NP_001229818.2:n.-29+34_-29+37dup