Canonical Allele Identifier: CA2714495649
Gene: DDC HGNC NCBI

Linked Data

dbSNP Id: rs2153550463

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50544040_50544041insGTTGGCCACGTA , CM000669.2:g.50544040_50544041insGTTGGCCACGTA GRCh38
NC_000007.13:g.50611738_50611739insGTTGGCCACGTA , CM000669.1:g.50611738_50611739insGTTGGCCACGTA GRCh37
NC_000007.12:g.50579232_50579233insGTTGGCCACGTA NCBI36
NG_008742.1:g.26419_26420insGTGGCCAACTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.48_49insGTGGCCAACTAC MANE Select ENSP00000403644.2:p.Tyr16_Met17insValAlaAsnTyr
ENST00000357936.9:c.48_49insGTGGCCAACTAC ENSP00000350616.5:p.Tyr16_Met17insValAlaAsnTyr
ENST00000380984.4:c.48_49insGTGGCCAACTAC ENSP00000370371.4:p.Tyr16_Met17insValAlaAsnTyr
ENST00000420203.1:c.48_49insGTGGCCAACTAC ENSP00000408626.1:p.Tyr16_Met17insValAlaAsnTyr
ENST00000426377.5:c.48_49insGTGGCCAACTAC ENSP00000395069.1:p.Tyr16_Met17insValAlaAsnTyr
ENST00000431062.5:c.48_49insGTGGCCAACTAC ENSP00000399184.1:p.Tyr16_Met17insValAlaAsnTyr
ENST00000444124.6:c.48_49insGTGGCCAACTAC ENSP00000403644.2:p.Tyr16_Met17insValAlaAsnTyr
ENST00000444733.5:c.48_49insGTGGCCAACTAC ENSP00000393724.1:p.Tyr16_Met17insValAlaAsnTyr
ENST00000615193.4:c.48_49insGTGGCCAACTAC ENSP00000484104.1:p.Tyr16_Met17insValAlaAsnTyr
ENST00000617822.4:c.48_49insGTGGCCAACTAC ENSP00000478385.1:p.Tyr16_Met17insValAlaAsnTyr
ENST00000622873.4:c.48_49insGTGGCCAACTAC ENSP00000479110.1:p.Tyr16_Met17insValAlaAsnTyr
NM_000790.3:c.48_49insGTGGCCAACTAC NP_000781.1:p.Tyr16_Val17insValAlaAsnTyr
NM_001082971.1:c.48_49insGTGGCCAACTAC NP_001076440.1:p.Tyr16_Val17insValAlaAsnTyr
NM_001242886.1:c.48_49insGTGGCCAACTAC NP_001229815.1:p.Tyr16_Val17insValAlaAsnTyr
NM_001242887.1:c.48_49insGTGGCCAACTAC NP_001229816.1:p.Tyr16_Val17insValAlaAsnTyr
NM_001242888.1:c.48_49insGTGGCCAACTAC NP_001229817.1:p.Tyr16_Val17insValAlaAsnTyr
NM_001242889.1:c.48_49insGTGGCCAACTAC NP_001229818.1:p.Tyr16_Val17insValAlaAsnTyr
NM_001242890.1:c.48_49insGTGGCCAACTAC NP_001229819.1:p.Tyr16_Val17insValAlaAsnTyr
XM_005271745.3:c.48_49insGTGGCCAACTAC XP_005271802.1:p.Tyr16_Met17insValAlaAsnTyr
XM_005271745.4:c.48_49insGTGGCCAACTAC XP_005271802.1:p.Tyr16_Met17insValAlaAsnTyr
NM_001082971.2:c.48_49insGTGGCCAACTAC MANE Select NP_001076440.2:p.Tyr16_Met17insValAlaAsnTyr
NM_000790.4:c.48_49insGTGGCCAACTAC NP_000781.2:p.Tyr16_Met17insValAlaAsnTyr
NM_001242888.2:c.48_49insGTGGCCAACTAC NP_001229817.2:p.Tyr16_Met17insValAlaAsnTyr
NM_001242890.2:c.48_49insGTGGCCAACTAC NP_001229819.2:p.Tyr16_Met17insValAlaAsnTyr
NM_001242886.2:c.48_49insGTGGCCAACTAC NP_001229815.2:p.Tyr16_Met17insValAlaAsnTyr
NM_001242887.2:c.48_49insGTGGCCAACTAC NP_001229816.2:p.Tyr16_Met17insValAlaAsnTyr
NM_001242889.2:c.48_49insGTGGCCAACTAC NP_001229818.2:p.Tyr16_Met17insValAlaAsnTyr