Canonical Allele Identifier: CA1441586030

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492139_17492146delinsCCAGGTCG , CM000666.2:g.17492139_17492146delinsCCAGGTCG	GRCh38
NC_000004.11:g.17493762_17493769delinsCCAGGTCG , CM000666.1:g.17493762_17493769delinsCCAGGTCG	GRCh37
NC_000004.10:g.17102860_17102867delinsCCAGGTCG	NCBI36
NG_008763.1:g.25089_25096delinsCGACCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+86_1592+93delinsCGACCTGG
ENST00000281243.10:c.545+86_545+93delinsCGACCTGG MANE Select	ENSP00000281243.5:n.545+86_545+93delinsCGACCTGG
ENST00000281243.9:c.545+86_545+93delinsCGACCTGG	ENSP00000281243.5:n.545+86_545+93delinsCGACCTGG
ENST00000428702.6:c.452+86_452+93delinsCGACCTGG	ENSP00000390944.2:n.452+86_452+93delinsCGACCTGG
ENST00000501943.6:n.282+86_282+93delinsCGACCTGG
ENST00000505710.1:c.364-1401_364-1394delinsCGACCTGG
ENST00000507439.5:c.437-1401_437-1394delinsCGACCTGG	ENSP00000423227.1:n.437-1401_437-1394delinsCGACCTGG
ENST00000508623.5:c.437-4910_437-4903delinsCGACCTGG	ENSP00000426377.1:n.437-4910_437-4903delinsCGACCTGG
ENST00000511609.1:n.277+86_277+93delinsCGACCTGG
ENST00000513615.5:c.437-1401_437-1394delinsCGACCTGG	ENSP00000422759.1:n.437-1401_437-1394delinsCGACCTGG
ENST00000514300.1:c.*368-1401_*368-1394delinsCGACCTGG	ENSP00000426039.1:n.*368-1401_*368-1394delinsCGACCTGG
NM_000320.2:c.545+86_545+93delinsCGACCTGG	NP_000311.2:n.545+86_545+93delinsCGACCTGG
NM_001306140.1:c.452+86_452+93delinsCGACCTGG	NP_001293069.1:n.452+86_452+93delinsCGACCTGG
XR_241677.1:n.600-1401_600-1394delinsCGACCTGG
NR_156494.1:n.617-1401_617-1394delinsCGACCTGG
NM_000320.3:c.545+86_545+93delinsCGACCTGG MANE Select	NP_000311.2:n.545+86_545+93delinsCGACCTGG
NM_001306140.2:c.452+86_452+93delinsCGACCTGG	NP_001293069.1:n.452+86_452+93delinsCGACCTGG
NR_156494.2:n.473-1401_473-1394delinsCGACCTGG