Canonical Allele Identifier: CA583938923

Gene: DPYS

Linked Data

• dbSNP Id: rs1233515154
• gnomAD v2: 8-105391753-CTATT-C
• gnomAD v3: 8-104379525-CTATT-C
• gnomAD v4: 8-104379525-CTATT-C
• MyVariant Identifiers: chr8:g.105391754_105391757del (hg19) ; chr8:g.104379526_104379529del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379528_104379531del , CM000670.2:g.104379528_104379531del	GRCh38
NC_000008.10:g.105391756_105391759del , CM000670.1:g.105391756_105391759del	GRCh37
NC_000008.9:g.105460932_105460935del	NCBI36
NG_008840.1:g.92521_92524del
NG_008840.2:g.92521_92524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*329_*332del MANE Select	ENSP00000276651.2:n.*329_*332del
ENST00000351513.6:c.*329_*332del	ENSP00000276651.2:n.*329_*332del
ENST00000520806.1:n.543_546del
ENST00000521601.1:n.328+1655_328+1658del
ENST00000533874.1:c.388_391del
NM_001385.2:c.*329_*332del	NP_001376.1:n.*329_*332del
XM_005250818.2:c.*329_*332del	XP_005250875.1:n.*329_*332del
XM_006716518.2:c.*329_*332del	XP_006716581.1:n.*329_*332del
XM_005250818.3:c.*329_*332del	XP_005250875.1:n.*329_*332del
XM_006716518.3:c.*329_*332del	XP_006716581.1:n.*329_*332del
XM_024447087.1:c.*866_*869del	XP_024302855.1:n.*866_*869del
XR_001745489.1:n.2488_2491del
XR_001745490.2:n.2380_2383del
NM_001385.3:c.*329_*332del MANE Select	NP_001376.1:n.*329_*332del