Canonical Allele Identifier: CA844969598

Gene: DPYS

Linked Data

• dbSNP Id: rs1373785372
• gnomAD v3: 8-104379459-TAC-T
• gnomAD v4: 8-104379459-TAC-T
• MyVariant Identifiers: chr8:g.105391688_105391689del (hg19) ; chr8:g.104379460_104379461del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379461_104379462del , CM000670.2:g.104379461_104379462del	GRCh38
NC_000008.10:g.105391689_105391690del , CM000670.1:g.105391689_105391690del	GRCh37
NC_000008.9:g.105460865_105460866del	NCBI36
NG_008840.1:g.92589_92590del
NG_008840.2:g.92589_92590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*397_*398del MANE Select	ENSP00000276651.2:n.*397_*398del
ENST00000351513.6:c.*397_*398del	ENSP00000276651.2:n.*397_*398del
ENST00000520806.1:n.611_612del
ENST00000521601.1:n.328+1723_328+1724del
NM_001385.2:c.*397_*398del	NP_001376.1:n.*397_*398del
XM_005250818.2:c.*397_*398del	XP_005250875.1:n.*397_*398del
XM_006716518.2:c.*397_*398del	XP_006716581.1:n.*397_*398del
XM_005250818.3:c.*397_*398del	XP_005250875.1:n.*397_*398del
XM_006716518.3:c.*397_*398del	XP_006716581.1:n.*397_*398del
XM_024447087.1:c.*934_*935del	XP_024302855.1:n.*934_*935del
XR_001745489.1:n.2556_2557del
XR_001745490.2:n.2448_2449del
NM_001385.3:c.*397_*398del MANE Select	NP_001376.1:n.*397_*398del