Canonical Allele Identifier: CA1441586187

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492457_17492460delinsGCCT , CM000666.2:g.17492457_17492460delinsGCCT	GRCh38
NC_000004.11:g.17494080_17494083delinsGCCT , CM000666.1:g.17494080_17494083delinsGCCT	GRCh37
NC_000004.10:g.17103178_17103181delinsGCCT	NCBI36
NG_008763.1:g.24775_24778delinsAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-120_1484-117delinsAGGC
ENST00000281243.10:c.437-120_437-117delinsAGGC MANE Select	ENSP00000281243.5:n.437-120_437-117delinsAGGC
ENST00000281243.9:c.437-120_437-117delinsAGGC	ENSP00000281243.5:n.437-120_437-117delinsAGGC
ENST00000428702.6:c.344-120_344-117delinsAGGC	ENSP00000390944.2:n.344-120_344-117delinsAGGC
ENST00000501943.6:n.54_57delinsAGGC
ENST00000505710.1:c.364-1715_364-1712delinsAGGC
ENST00000507439.5:c.437-1715_437-1712delinsAGGC	ENSP00000423227.1:n.437-1715_437-1712delinsAGGC
ENST00000508623.5:c.437-5224_437-5221delinsAGGC	ENSP00000426377.1:n.437-5224_437-5221delinsAGGC
ENST00000511609.1:n.49_52delinsAGGC
ENST00000513615.5:c.437-1715_437-1712delinsAGGC	ENSP00000422759.1:n.437-1715_437-1712delinsAGGC
ENST00000514300.1:c.*368-1715_*368-1712delinsAGGC	ENSP00000426039.1:n.*368-1715_*368-1712delinsAGGC
NM_000320.2:c.437-120_437-117delinsAGGC	NP_000311.2:n.437-120_437-117delinsAGGC
NM_001306140.1:c.344-120_344-117delinsAGGC	NP_001293069.1:n.344-120_344-117delinsAGGC
XR_241677.1:n.600-1715_600-1712delinsAGGC
NR_156494.1:n.617-1715_617-1712delinsAGGC
NM_000320.3:c.437-120_437-117delinsAGGC MANE Select	NP_000311.2:n.437-120_437-117delinsAGGC
NM_001306140.2:c.344-120_344-117delinsAGGC	NP_001293069.1:n.344-120_344-117delinsAGGC
NR_156494.2:n.473-1715_473-1712delinsAGGC