Canonical Allele Identifier: CA2781590460
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104466930_104466934del , CM000670.2:g.104466930_104466934del GRCh38
NC_000008.10:g.105479158_105479162del , CM000670.1:g.105479158_105479162del GRCh37
NC_000008.9:g.105548334_105548338del NCBI36
NG_008840.1:g.5116_5120del
NG_008840.2:g.5116_5120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351513.7:c.-14_-10del MANE Select ENSP00000276651.2:n.-14_-10del
ENST00000351513.6:c.-14_-10del ENSP00000276651.2:n.-14_-10del
ENST00000521573.2:c.-14_-10del ENSP00000430246.2:n.-14_-10del
NM_001385.2:c.-14_-10del NP_001376.1:n.-14_-10del
XM_005250818.2:c.-14_-10del XP_005250875.1:n.-14_-10del
XM_006716518.2:c.-14_-10del XP_006716581.1:n.-14_-10del
XM_011516903.1:c.-14_-10del XP_011515205.1:n.-14_-10del
XM_011516904.1:c.-14_-10del XP_011515206.1:n.-14_-10del
XR_928507.1:n.112+943_112+947del
XM_005250818.3:c.-14_-10del XP_005250875.1:n.-14_-10del
XM_006716518.3:c.-14_-10del XP_006716581.1:n.-14_-10del
XM_011516903.3:c.-14_-10del XP_011515205.1:n.-14_-10del
XM_017013167.2:c.-14_-10del XP_016868656.1:n.-14_-10del
XM_024447087.1:c.-14_-10del XP_024302855.1:n.-14_-10del
XR_001745489.1:n.141_145del
XR_001745490.2:n.141_145del
XR_928507.2:n.233+943_233+947del
NM_001385.3:c.-14_-10del MANE Select NP_001376.1:n.-14_-10del