Canonical Allele Identifier: CA918333297

Gene: DPYS

Linked Data

• dbSNP Id: rs1588471289
• gnomAD v4: 8-104466927-GGGCGCGCGGGGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466928_104466940del , CM000670.2:g.104466928_104466940del	GRCh38
NC_000008.10:g.105479156_105479168del , CM000670.1:g.105479156_105479168del	GRCh37
NC_000008.9:g.105548332_105548344del	NCBI36
NG_008840.1:g.5110_5122del
NG_008840.2:g.5110_5122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.-20_-8del MANE Select	ENSP00000276651.2:n.-20_-8del
ENST00000351513.6:c.-20_-8del	ENSP00000276651.2:n.-20_-8del
ENST00000521573.2:c.-20_-8del	ENSP00000430246.2:n.-20_-8del
NM_001385.2:c.-20_-8del	NP_001376.1:n.-20_-8del
XM_005250818.2:c.-20_-8del	XP_005250875.1:n.-20_-8del
XM_006716518.2:c.-20_-8del	XP_006716581.1:n.-20_-8del
XM_011516903.1:c.-20_-8del	XP_011515205.1:n.-20_-8del
XM_011516904.1:c.-20_-8del	XP_011515206.1:n.-20_-8del
XR_928507.1:n.112+941_112+953del
XM_005250818.3:c.-20_-8del	XP_005250875.1:n.-20_-8del
XM_006716518.3:c.-20_-8del	XP_006716581.1:n.-20_-8del
XM_011516903.3:c.-20_-8del	XP_011515205.1:n.-20_-8del
XM_017013167.2:c.-20_-8del	XP_016868656.1:n.-20_-8del
XM_024447087.1:c.-20_-8del	XP_024302855.1:n.-20_-8del
XR_001745489.1:n.135_147del
XR_001745490.2:n.135_147del
XR_928507.2:n.233+941_233+953del
NM_001385.3:c.-20_-8del MANE Select	NP_001376.1:n.-20_-8del