Canonical Allele Identifier: CA2586973716

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492305del , CM000666.2:g.17492305del	GRCh38
NC_000004.11:g.17493928del , CM000666.1:g.17493928del	GRCh37
NC_000004.10:g.17103026del	NCBI36
NG_008763.1:g.24930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1519del
ENST00000281243.10:c.472del MANE Select	ENSP00000281243.5:p.His158ThrfsTer?
ENST00000281243.9:c.472del	ENSP00000281243.5:p.His158ThrfsTer?
ENST00000428702.6:c.379del	ENSP00000390944.2:p.His127ThrfsTer?
ENST00000501943.6:n.209del
ENST00000505710.1:c.364-1560del
ENST00000507439.5:c.437-1560del	ENSP00000423227.1:n.437-1560del
ENST00000508623.5:c.437-5069del	ENSP00000426377.1:n.437-5069del
ENST00000511609.1:n.204del
ENST00000513615.5:c.437-1560del	ENSP00000422759.1:n.437-1560del
ENST00000514300.1:c.*368-1560del	ENSP00000426039.1:n.*368-1560del
NM_000320.2:c.472del	NP_000311.2:p.His158ThrfsTer?
NM_001306140.1:c.379del	NP_001293069.1:p.His127ThrfsTer?
XR_241677.1:n.600-1560del
NR_156494.1:n.617-1560del
NM_000320.3:c.472del MANE Select	NP_000311.2:p.His158ThrfsTer?
NM_001306140.2:c.379del	NP_001293069.1:p.His127ThrfsTer?
NR_156494.2:n.473-1560del