Canonical Allele Identifier: CA1441586031

Gene: QDPR

Linked Data

• dbSNP Id: rs1718186160

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492141_17492147del , CM000666.2:g.17492141_17492147del	GRCh38
NC_000004.11:g.17493764_17493770del , CM000666.1:g.17493764_17493770del	GRCh37
NC_000004.10:g.17102862_17102868del	NCBI36
NG_008763.1:g.25089_25095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+86_1592+92del
ENST00000281243.10:c.545+86_545+92del MANE Select	ENSP00000281243.5:n.545+86_545+92del
ENST00000281243.9:c.545+86_545+92del	ENSP00000281243.5:n.545+86_545+92del
ENST00000428702.6:c.452+86_452+92del	ENSP00000390944.2:n.452+86_452+92del
ENST00000501943.6:n.282+86_282+92del
ENST00000505710.1:c.364-1401_364-1395del
ENST00000507439.5:c.437-1401_437-1395del	ENSP00000423227.1:n.437-1401_437-1395del
ENST00000508623.5:c.437-4910_437-4904del	ENSP00000426377.1:n.437-4910_437-4904del
ENST00000511609.1:n.277+86_277+92del
ENST00000513615.5:c.437-1401_437-1395del	ENSP00000422759.1:n.437-1401_437-1395del
ENST00000514300.1:c.*368-1401_*368-1395del	ENSP00000426039.1:n.*368-1401_*368-1395del
NM_000320.2:c.545+86_545+92del	NP_000311.2:n.545+86_545+92del
NM_001306140.1:c.452+86_452+92del	NP_001293069.1:n.452+86_452+92del
XR_241677.1:n.600-1401_600-1395del
NR_156494.1:n.617-1401_617-1395del
NM_000320.3:c.545+86_545+92del MANE Select	NP_000311.2:n.545+86_545+92del
NM_001306140.2:c.452+86_452+92del	NP_001293069.1:n.452+86_452+92del
NR_156494.2:n.473-1401_473-1395del