Canonical Allele Identifier: CA2670124317

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492339-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492341del , CM000666.2:g.17492341del	GRCh38
NC_000004.11:g.17493964del , CM000666.1:g.17493964del	GRCh37
NC_000004.10:g.17103062del	NCBI36
NG_008763.1:g.24895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484del
ENST00000281243.10:c.437del
ENST00000281243.9:c.437del
ENST00000428702.6:c.344del
ENST00000501943.6:n.174del
ENST00000505710.1:c.364-1595del
ENST00000507439.5:c.437-1595del	ENSP00000423227.1:n.437-1595del
ENST00000508623.5:c.437-5104del	ENSP00000426377.1:n.437-5104del
ENST00000511609.1:n.169del
ENST00000513615.5:c.437-1595del	ENSP00000422759.1:n.437-1595del
ENST00000514300.1:c.*368-1595del	ENSP00000426039.1:n.*368-1595del
NM_000320.2:c.437del
NM_001306140.1:c.344del
XR_241677.1:n.600-1595del
NR_156494.1:n.617-1595del
NM_000320.3:c.437del
NM_001306140.2:c.344del
NR_156494.2:n.473-1595del