Canonical Allele Identifier: CA2578051090

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492344_17492345del , CM000666.2:g.17492344_17492345del	GRCh38
NC_000004.11:g.17493967_17493968del , CM000666.1:g.17493967_17493968del	GRCh37
NC_000004.10:g.17103065_17103066del	NCBI36
NG_008763.1:g.24891_24892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-4_1484-3del
ENST00000281243.10:c.437-4_437-3del MANE Select	ENSP00000281243.5:n.437-4_437-3del
ENST00000281243.9:c.437-4_437-3del	ENSP00000281243.5:n.437-4_437-3del
ENST00000428702.6:c.344-4_344-3del	ENSP00000390944.2:n.344-4_344-3del
ENST00000501943.6:n.170_171del
ENST00000505710.1:c.364-1599_364-1598del
ENST00000507439.5:c.437-1599_437-1598del	ENSP00000423227.1:n.437-1599_437-1598del
ENST00000508623.5:c.437-5108_437-5107del	ENSP00000426377.1:n.437-5108_437-5107del
ENST00000511609.1:n.165_166del
ENST00000513615.5:c.437-1599_437-1598del	ENSP00000422759.1:n.437-1599_437-1598del
ENST00000514300.1:c.*368-1599_*368-1598del	ENSP00000426039.1:n.*368-1599_*368-1598del
NM_000320.2:c.437-4_437-3del	NP_000311.2:n.437-4_437-3del
NM_001306140.1:c.344-4_344-3del	NP_001293069.1:n.344-4_344-3del
XR_241677.1:n.600-1599_600-1598del
NR_156494.1:n.617-1599_617-1598del
NM_000320.3:c.437-4_437-3del MANE Select	NP_000311.2:n.437-4_437-3del
NM_001306140.2:c.344-4_344-3del	NP_001293069.1:n.344-4_344-3del
NR_156494.2:n.473-1599_473-1598del