Canonical Allele Identifier: CA2760590170
Gene: QDPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492638_17492640del , CM000666.2:g.17492638_17492640del GRCh38
NC_000004.11:g.17494261_17494263del , CM000666.1:g.17494261_17494263del GRCh37
NC_000004.10:g.17103359_17103361del NCBI36
NG_008763.1:g.24596_24598del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1484-299_1484-297del
ENST00000281243.10:c.437-299_437-297del MANE Select ENSP00000281243.5:n.437-299_437-297del
ENST00000281243.9:c.437-299_437-297del ENSP00000281243.5:n.437-299_437-297del
ENST00000428702.6:c.344-299_344-297del ENSP00000390944.2:n.344-299_344-297del
ENST00000505710.1:c.364-1894_364-1892del
ENST00000507439.5:c.437-1894_437-1892del ENSP00000423227.1:n.437-1894_437-1892del
ENST00000508623.5:c.437-5403_437-5401del ENSP00000426377.1:n.437-5403_437-5401del
ENST00000513615.5:c.437-1894_437-1892del ENSP00000422759.1:n.437-1894_437-1892del
ENST00000514300.1:c.*368-1894_*368-1892del ENSP00000426039.1:n.*368-1894_*368-1892del
NM_000320.2:c.437-299_437-297del NP_000311.2:n.437-299_437-297del
NM_001306140.1:c.344-299_344-297del NP_001293069.1:n.344-299_344-297del
XR_241677.1:n.600-1894_600-1892del
NR_156494.1:n.617-1894_617-1892del
NM_000320.3:c.437-299_437-297del MANE Select NP_000311.2:n.437-299_437-297del
NM_001306140.2:c.344-299_344-297del NP_001293069.1:n.344-299_344-297del
NR_156494.2:n.473-1894_473-1892del