Canonical Allele Identifier: CA583938924

Gene: DPYS

Linked Data

• dbSNP Id: rs1280713442
• gnomAD v2: 8-105391785-CTAAG-C
• gnomAD v3: 8-104379557-CTAAG-C
• gnomAD v4: 8-104379557-CTAAG-C
• MyVariant Identifiers: chr8:g.105391786_105391789del (hg19) ; chr8:g.104379558_104379561del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379562_104379565del , CM000670.2:g.104379562_104379565del	GRCh38
NC_000008.10:g.105391790_105391793del , CM000670.1:g.105391790_105391793del	GRCh37
NC_000008.9:g.105460966_105460969del	NCBI36
NG_008840.1:g.92489_92492del
NG_008840.2:g.92489_92492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*297_*300del MANE Select	ENSP00000276651.2:n.*297_*300del
ENST00000351513.6:c.*297_*300del	ENSP00000276651.2:n.*297_*300del
ENST00000520806.1:n.511_514del
ENST00000521601.1:n.328+1623_328+1626del
ENST00000533874.1:c.356_359del
NM_001385.2:c.*297_*300del	NP_001376.1:n.*297_*300del
XM_005250818.2:c.*297_*300del	XP_005250875.1:n.*297_*300del
XM_006716518.2:c.*297_*300del	XP_006716581.1:n.*297_*300del
XM_005250818.3:c.*297_*300del	XP_005250875.1:n.*297_*300del
XM_006716518.3:c.*297_*300del	XP_006716581.1:n.*297_*300del
XM_024447087.1:c.*834_*837del	XP_024302855.1:n.*834_*837del
XR_001745489.1:n.2456_2459del
XR_001745490.2:n.2348_2351del
NM_001385.3:c.*297_*300del MANE Select	NP_001376.1:n.*297_*300del