Canonical Allele Identifier: CA2586973715

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492253_17492254delinsCT , CM000666.2:g.17492253_17492254delinsCT	GRCh38
NC_000004.11:g.17493876_17493877delinsCT , CM000666.1:g.17493876_17493877delinsCT	GRCh37
NC_000004.10:g.17102974_17102975delinsCT	NCBI36
NG_008763.1:g.24981_24982delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1570_1571delinsAG
ENST00000281243.10:c.523_524delinsAG MANE Select	ENSP00000281243.5:p.Ala175Arg
ENST00000281243.9:c.523_524delinsAG	ENSP00000281243.5:p.Ala175Arg
ENST00000428702.6:c.430_431delinsAG	ENSP00000390944.2:p.Ala144Arg
ENST00000501943.6:n.260_261delinsAG
ENST00000505710.1:c.364-1509_364-1508delinsAG
ENST00000507439.5:c.437-1509_437-1508delinsAG	ENSP00000423227.1:n.437-1509_437-1508delinsAG
ENST00000508623.5:c.437-5018_437-5017delinsAG	ENSP00000426377.1:n.437-5018_437-5017delinsAG
ENST00000511609.1:n.255_256delinsAG
ENST00000513615.5:c.437-1509_437-1508delinsAG	ENSP00000422759.1:n.437-1509_437-1508delinsAG
ENST00000514300.1:c.*368-1509_*368-1508delinsAG	ENSP00000426039.1:n.*368-1509_*368-1508delinsAG
NM_000320.2:c.523_524delinsAG	NP_000311.2:p.Ala175Arg
NM_001306140.1:c.430_431delinsAG	NP_001293069.1:p.Ala144Arg
XR_241677.1:n.600-1509_600-1508delinsAG
NR_156494.1:n.617-1509_617-1508delinsAG
NM_000320.3:c.523_524delinsAG MANE Select	NP_000311.2:p.Ala175Arg
NM_001306140.2:c.430_431delinsAG	NP_001293069.1:p.Ala144Arg
NR_156494.2:n.473-1509_473-1508delinsAG