Canonical Allele Identifier: CA1059782910

Gene: QDPR

Linked Data

• dbSNP Id: rs1718173009
• gnomAD v3: 4-17491803-AATAG-A
• gnomAD v4: 4-17491803-AATAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491804_17491807del , CM000666.2:g.17491804_17491807del	GRCh38
NC_000004.11:g.17493427_17493430del , CM000666.1:g.17493427_17493430del	GRCh37
NC_000004.10:g.17102525_17102528del	NCBI36
NG_008763.1:g.25428_25431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+425_1592+428del
ENST00000281243.10:c.545+425_545+428del MANE Select	ENSP00000281243.5:n.545+425_545+428del
ENST00000281243.9:c.545+425_545+428del	ENSP00000281243.5:n.545+425_545+428del
ENST00000428702.6:c.452+425_452+428del	ENSP00000390944.2:n.452+425_452+428del
ENST00000501943.6:n.282+425_282+428del
ENST00000505710.1:c.364-1062_364-1059del
ENST00000507439.5:c.437-1062_437-1059del	ENSP00000423227.1:n.437-1062_437-1059del
ENST00000508623.5:c.437-4571_437-4568del	ENSP00000426377.1:n.437-4571_437-4568del
ENST00000511609.1:n.277+425_277+428del
ENST00000513615.5:c.437-1062_437-1059del	ENSP00000422759.1:n.437-1062_437-1059del
ENST00000514300.1:c.*368-1062_*368-1059del	ENSP00000426039.1:n.*368-1062_*368-1059del
NM_000320.2:c.545+425_545+428del	NP_000311.2:n.545+425_545+428del
NM_001306140.1:c.452+425_452+428del	NP_001293069.1:n.452+425_452+428del
XR_241677.1:n.600-1062_600-1059del
NR_156494.1:n.617-1062_617-1059del
NM_000320.3:c.545+425_545+428del MANE Select	NP_000311.2:n.545+425_545+428del
NM_001306140.2:c.452+425_452+428del	NP_001293069.1:n.452+425_452+428del
NR_156494.2:n.473-1062_473-1059del