Canonical Allele Identifier: CA2760590143

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492146_17492148del , CM000666.2:g.17492146_17492148del	GRCh38
NC_000004.11:g.17493769_17493771del , CM000666.1:g.17493769_17493771del	GRCh37
NC_000004.10:g.17102867_17102869del	NCBI36
NG_008763.1:g.25088_25090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+85_1592+87del
ENST00000281243.10:c.545+85_545+87del MANE Select	ENSP00000281243.5:n.545+85_545+87del
ENST00000281243.9:c.545+85_545+87del	ENSP00000281243.5:n.545+85_545+87del
ENST00000428702.6:c.452+85_452+87del	ENSP00000390944.2:n.452+85_452+87del
ENST00000501943.6:n.282+85_282+87del
ENST00000505710.1:c.364-1402_364-1400del
ENST00000507439.5:c.437-1402_437-1400del	ENSP00000423227.1:n.437-1402_437-1400del
ENST00000508623.5:c.437-4911_437-4909del	ENSP00000426377.1:n.437-4911_437-4909del
ENST00000511609.1:n.277+85_277+87del
ENST00000513615.5:c.437-1402_437-1400del	ENSP00000422759.1:n.437-1402_437-1400del
ENST00000514300.1:c.*368-1402_*368-1400del	ENSP00000426039.1:n.*368-1402_*368-1400del
NM_000320.2:c.545+85_545+87del	NP_000311.2:n.545+85_545+87del
NM_001306140.1:c.452+85_452+87del	NP_001293069.1:n.452+85_452+87del
XR_241677.1:n.600-1402_600-1400del
NR_156494.1:n.617-1402_617-1400del
NM_000320.3:c.545+85_545+87del MANE Select	NP_000311.2:n.545+85_545+87del
NM_001306140.2:c.452+85_452+87del	NP_001293069.1:n.452+85_452+87del
NR_156494.2:n.473-1402_473-1400del