Canonical Allele Identifier: CA2670124242

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492128-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492132_17492133del , CM000666.2:g.17492132_17492133del	GRCh38
NC_000004.11:g.17493755_17493756del , CM000666.1:g.17493755_17493756del	GRCh37
NC_000004.10:g.17102853_17102854del	NCBI36
NG_008763.1:g.25105_25106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+102_1592+103del
ENST00000281243.10:c.545+102_545+103del MANE Select	ENSP00000281243.5:n.545+102_545+103del
ENST00000281243.9:c.545+102_545+103del	ENSP00000281243.5:n.545+102_545+103del
ENST00000428702.6:c.452+102_452+103del	ENSP00000390944.2:n.452+102_452+103del
ENST00000501943.6:n.282+102_282+103del
ENST00000505710.1:c.364-1385_364-1384del
ENST00000507439.5:c.437-1385_437-1384del	ENSP00000423227.1:n.437-1385_437-1384del
ENST00000508623.5:c.437-4894_437-4893del	ENSP00000426377.1:n.437-4894_437-4893del
ENST00000511609.1:n.277+102_277+103del
ENST00000513615.5:c.437-1385_437-1384del	ENSP00000422759.1:n.437-1385_437-1384del
ENST00000514300.1:c.*368-1385_*368-1384del	ENSP00000426039.1:n.*368-1385_*368-1384del
NM_000320.2:c.545+102_545+103del	NP_000311.2:n.545+102_545+103del
NM_001306140.1:c.452+102_452+103del	NP_001293069.1:n.452+102_452+103del
XR_241677.1:n.600-1385_600-1384del
NR_156494.1:n.617-1385_617-1384del
NM_000320.3:c.545+102_545+103del MANE Select	NP_000311.2:n.545+102_545+103del
NM_001306140.2:c.452+102_452+103del	NP_001293069.1:n.452+102_452+103del
NR_156494.2:n.473-1385_473-1384del