Canonical Allele Identifier: CA2573137643

Gene: QDPR

Linked Data

• ClinVar Variation Id: 1413141
• ClinVar RCV Id: RCV001943371
• dbSNP Id: rs2108999089

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17512003del , CM000666.2:g.17512003del	GRCh38
NC_000004.11:g.17513626del , CM000666.1:g.17513626del	GRCh37
NC_000004.10:g.17122724del	NCBI36
NG_008763.1:g.5233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.53del MANE Select	ENSP00000281243.5:p.Gly18AlafsTer?
ENST00000281243.9:c.53del	ENSP00000281243.5:p.Gly18AlafsTer?
ENST00000428702.6:c.53del	ENSP00000390944.2:p.Gly18AlafsTer19
ENST00000507439.5:c.53del	ENSP00000423227.1:p.Gly18AlafsTer?
ENST00000508623.5:c.53del	ENSP00000426377.1:p.Gly18AlafsTer?
ENST00000513615.5:c.53del	ENSP00000422759.1:p.Gly18AlafsTer?
ENST00000514300.1:c.53del	ENSP00000426039.1:p.Gly18AlafsTer21
NM_000320.2:c.53del	NP_000311.2:p.Gly18AlafsTer?
NM_001306140.1:c.53del	NP_001293069.1:p.Gly18AlafsTer19
XR_241677.1:n.216del
NR_156494.1:n.233del
NM_000320.3:c.53del MANE Select	NP_000311.2:p.Gly18AlafsTer?
NM_001306140.2:c.53del	NP_001293069.1:p.Gly18AlafsTer19
NR_156494.2:n.89del