Canonical Allele Identifier: CA1441585889
Gene: QDPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17491825_17491831delinsTGCAGGA , CM000666.2:g.17491825_17491831delinsTGCAGGA GRCh38
NC_000004.11:g.17493448_17493454delinsTGCAGGA , CM000666.1:g.17493448_17493454delinsTGCAGGA GRCh37
NC_000004.10:g.17102546_17102552delinsTGCAGGA NCBI36
NG_008763.1:g.25404_25410delinsTCCTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1592+401_1592+407delinsTCCTGCA
ENST00000281243.10:c.545+401_545+407delinsTCCTGCA MANE Select ENSP00000281243.5:n.545+401_545+407delinsTCCTGCA
ENST00000281243.9:c.545+401_545+407delinsTCCTGCA ENSP00000281243.5:n.545+401_545+407delinsTCCTGCA
ENST00000428702.6:c.452+401_452+407delinsTCCTGCA ENSP00000390944.2:n.452+401_452+407delinsTCCTGCA
ENST00000501943.6:n.282+401_282+407delinsTCCTGCA
ENST00000505710.1:c.364-1086_364-1080delinsTCCTGCA
ENST00000507439.5:c.437-1086_437-1080delinsTCCTGCA ENSP00000423227.1:n.437-1086_437-1080delinsTCCTGCA
ENST00000508623.5:c.437-4595_437-4589delinsTCCTGCA ENSP00000426377.1:n.437-4595_437-4589delinsTCCTGCA
ENST00000511609.1:n.277+401_277+407delinsTCCTGCA
ENST00000513615.5:c.437-1086_437-1080delinsTCCTGCA ENSP00000422759.1:n.437-1086_437-1080delinsTCCTGCA
ENST00000514300.1:c.*368-1086_*368-1080delinsTCCTGCA ENSP00000426039.1:n.*368-1086_*368-1080delinsTCCTGCA
NM_000320.2:c.545+401_545+407delinsTCCTGCA NP_000311.2:n.545+401_545+407delinsTCCTGCA
NM_001306140.1:c.452+401_452+407delinsTCCTGCA NP_001293069.1:n.452+401_452+407delinsTCCTGCA
XR_241677.1:n.600-1086_600-1080delinsTCCTGCA
NR_156494.1:n.617-1086_617-1080delinsTCCTGCA
NM_000320.3:c.545+401_545+407delinsTCCTGCA MANE Select NP_000311.2:n.545+401_545+407delinsTCCTGCA
NM_001306140.2:c.452+401_452+407delinsTCCTGCA NP_001293069.1:n.452+401_452+407delinsTCCTGCA
NR_156494.2:n.473-1086_473-1080delinsTCCTGCA