Canonical Allele Identifier: CA1117446242

Gene: DPYS

Linked Data

• dbSNP Id: rs1810962202
• gnomAD v3: 8-104379519-AAG-A
• gnomAD v4: 8-104379519-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379521_104379522del , CM000670.2:g.104379521_104379522del	GRCh38
NC_000008.10:g.105391749_105391750del , CM000670.1:g.105391749_105391750del	GRCh37
NC_000008.9:g.105460925_105460926del	NCBI36
NG_008840.1:g.92529_92530del
NG_008840.2:g.92529_92530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*337_*338del MANE Select	ENSP00000276651.2:n.*337_*338del
ENST00000351513.6:c.*337_*338del	ENSP00000276651.2:n.*337_*338del
ENST00000520806.1:n.551_552del
ENST00000521601.1:n.328+1663_328+1664del
ENST00000533874.1:c.396_397del
NM_001385.2:c.*337_*338del	NP_001376.1:n.*337_*338del
XM_005250818.2:c.*337_*338del	XP_005250875.1:n.*337_*338del
XM_006716518.2:c.*337_*338del	XP_006716581.1:n.*337_*338del
XM_005250818.3:c.*337_*338del	XP_005250875.1:n.*337_*338del
XM_006716518.3:c.*337_*338del	XP_006716581.1:n.*337_*338del
XM_024447087.1:c.*874_*875del	XP_024302855.1:n.*874_*875del
XR_001745489.1:n.2496_2497del
XR_001745490.2:n.2388_2389del
NM_001385.3:c.*337_*338del MANE Select	NP_001376.1:n.*337_*338del