Canonical Allele Identifier: CA2781592892
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104379516_104379524del , CM000670.2:g.104379516_104379524del GRCh38
NC_000008.10:g.105391744_105391752del , CM000670.1:g.105391744_105391752del GRCh37
NC_000008.9:g.105460920_105460928del NCBI36
NG_008840.1:g.92528_92536del
NG_008840.2:g.92528_92536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.*336_*344del MANE Select ENSP00000276651.2:n.*336_*344del
ENST00000351513.6:c.*336_*344del ENSP00000276651.2:n.*336_*344del
ENST00000520806.1:n.550_558del
ENST00000521601.1:n.328+1662_328+1670del
ENST00000533874.1:c.395_403del
NM_001385.2:c.*336_*344del NP_001376.1:n.*336_*344del
XM_005250818.2:c.*336_*344del XP_005250875.1:n.*336_*344del
XM_006716518.2:c.*336_*344del XP_006716581.1:n.*336_*344del
XM_005250818.3:c.*336_*344del XP_005250875.1:n.*336_*344del
XM_006716518.3:c.*336_*344del XP_006716581.1:n.*336_*344del
XM_024447087.1:c.*873_*881del XP_024302855.1:n.*873_*881del
XR_001745489.1:n.2495_2503del
XR_001745490.2:n.2387_2395del
NM_001385.3:c.*336_*344del MANE Select NP_001376.1:n.*336_*344del