Canonical Allele Identifier: CA2688217162

Gene: DPYS

Linked Data

• gnomAD v4: 8-104466977-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466978del , CM000670.2:g.104466978del	GRCh38
NC_000008.10:g.105479206del , CM000670.1:g.105479206del	GRCh37
NC_000008.9:g.105548382del	NCBI36
NG_008840.1:g.5072del
NG_008840.2:g.5072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.-58del MANE Select	ENSP00000276651.2:n.-58del
ENST00000351513.6:c.-58del	ENSP00000276651.2:n.-58del
ENST00000521573.2:c.-58del	ENSP00000430246.2:n.-58del
NM_001385.2:c.-58del	NP_001376.1:n.-58del
XM_005250818.2:c.-58del	XP_005250875.1:n.-58del
XM_006716518.2:c.-58del	XP_006716581.1:n.-58del
XM_011516903.1:c.-58del	XP_011515205.1:n.-58del
XM_011516904.1:c.-58del	XP_011515206.1:n.-58del
XR_928507.1:n.112+991del
XM_005250818.3:c.-58del	XP_005250875.1:n.-58del
XM_006716518.3:c.-58del	XP_006716581.1:n.-58del
XM_011516903.3:c.-58del	XP_011515205.1:n.-58del
XM_017013167.2:c.-58del	XP_016868656.1:n.-58del
XM_024447087.1:c.-58del	XP_024302855.1:n.-58del
XR_001745489.1:n.97del
XR_001745490.2:n.97del
XR_928507.2:n.233+991del
NM_001385.3:c.-58del MANE Select	NP_001376.1:n.-58del