Canonical Allele Identifier: CA844969609

Gene: DPYS

Linked Data

• dbSNP Id: rs143004875
• gnomAD v3: 8-104379506-AT-A
• gnomAD v4: 8-104379506-AT-A
• MyVariant Identifiers: chr8:g.105391735del (hg19) ; chr8:g.104379507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379513del , CM000670.2:g.104379513del	GRCh38
NC_000008.10:g.105391741del , CM000670.1:g.105391741del	GRCh37
NC_000008.9:g.105460917del	NCBI36
NG_008840.1:g.92543del
NG_008840.2:g.92543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*351del MANE Select	ENSP00000276651.2:n.*351del
ENST00000351513.6:c.*351del	ENSP00000276651.2:n.*351del
ENST00000520806.1:n.565del
ENST00000521601.1:n.328+1677del
ENST00000533874.1:c.410del
NM_001385.2:c.*351del	NP_001376.1:n.*351del
XM_005250818.2:c.*351del	XP_005250875.1:n.*351del
XM_006716518.2:c.*351del	XP_006716581.1:n.*351del
XM_005250818.3:c.*351del	XP_005250875.1:n.*351del
XM_006716518.3:c.*351del	XP_006716581.1:n.*351del
XM_024447087.1:c.*888del	XP_024302855.1:n.*888del
XR_001745489.1:n.2510del
XR_001745490.2:n.2402del
NM_001385.3:c.*351del MANE Select	NP_001376.1:n.*351del