Canonical Allele Identifier: CA10624480

Gene: DPYS

Linked Data

• ClinVar Variation Id: 361442
• ClinVar RCV Id: RCV000382124
• dbSNP Id: rs143004875
• gnomAD v2: 8-105391734-A-AT
• gnomAD v3: 8-104379506-A-AT
• gnomAD v4: 8-104379506-A-AT
• MyVariant Identifiers: chr8:g.105391735dupT (hg19) ; chr8:g.105391734_105391735insT (hg19) ; chr8:g.104379507dupT (hg38) ; chr8:g.104379506_104379507insT (hg38)

Genomic Alleles

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

Transcript Alleles

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