Canonical Allele Identifier: CA1441586041
Gene: QDPR HGNC NCBI

Linked Data

dbSNP Id: rs1718186901

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492150_17492151insAC , CM000666.2:g.17492150_17492151insAC GRCh38
NC_000004.11:g.17493773_17493774insAC , CM000666.1:g.17493773_17493774insAC GRCh37
NC_000004.10:g.17102871_17102872insAC NCBI36
NG_008763.1:g.25084_25085insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1592+81_1592+82insGT
ENST00000281243.10:c.545+81_545+82insGT MANE Select ENSP00000281243.5:n.545+81_545+82insGT
ENST00000281243.9:c.545+81_545+82insGT ENSP00000281243.5:n.545+81_545+82insGT
ENST00000428702.6:c.452+81_452+82insGT ENSP00000390944.2:n.452+81_452+82insGT
ENST00000501943.6:n.282+81_282+82insGT
ENST00000505710.1:c.364-1406_364-1405insGT
ENST00000507439.5:c.437-1406_437-1405insGT ENSP00000423227.1:n.437-1406_437-1405insGT
ENST00000508623.5:c.437-4915_437-4914insGT ENSP00000426377.1:n.437-4915_437-4914insGT
ENST00000511609.1:n.277+81_277+82insGT
ENST00000513615.5:c.437-1406_437-1405insGT ENSP00000422759.1:n.437-1406_437-1405insGT
ENST00000514300.1:c.*368-1406_*368-1405insGT ENSP00000426039.1:n.*368-1406_*368-1405insGT
NM_000320.2:c.545+81_545+82insGT NP_000311.2:n.545+81_545+82insGT
NM_001306140.1:c.452+81_452+82insGT NP_001293069.1:n.452+81_452+82insGT
XR_241677.1:n.600-1406_600-1405insGT
NR_156494.1:n.617-1406_617-1405insGT
NM_000320.3:c.545+81_545+82insGT MANE Select NP_000311.2:n.545+81_545+82insGT
NM_001306140.2:c.452+81_452+82insGT NP_001293069.1:n.452+81_452+82insGT
NR_156494.2:n.473-1406_473-1405insGT