Canonical Allele Identifier: CA1059782919

Gene: QDPR

Linked Data

• dbSNP Id: rs1718173340
• gnomAD v3: 4-17491809-A-ACAAAACACAAACCCCTC
• gnomAD v4: 4-17491809-A-ACAAAACACAAACCCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491809_17491810insCAAAACACAAACCCCTC , CM000666.2:g.17491809_17491810insCAAAACACAAACCCCTC	GRCh38
NC_000004.11:g.17493432_17493433insCAAAACACAAACCCCTC , CM000666.1:g.17493432_17493433insCAAAACACAAACCCCTC	GRCh37
NC_000004.10:g.17102530_17102531insCAAAACACAAACCCCTC	NCBI36
NG_008763.1:g.25425_25426insGAGGGGTTTGTGTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+422_1592+423insGAGGGGTTTGTGTTTTG
ENST00000281243.10:c.545+422_545+423insGAGGGGTTTGTGTTTTG MANE Select	ENSP00000281243.5:n.545+422_545+423insGAGGGGTTTGTGTTTTG
ENST00000281243.9:c.545+422_545+423insGAGGGGTTTGTGTTTTG	ENSP00000281243.5:n.545+422_545+423insGAGGGGTTTGTGTTTTG
ENST00000428702.6:c.452+422_452+423insGAGGGGTTTGTGTTTTG	ENSP00000390944.2:n.452+422_452+423insGAGGGGTTTGTGTTTTG
ENST00000501943.6:n.282+422_282+423insGAGGGGTTTGTGTTTTG
ENST00000505710.1:c.364-1065_364-1064insGAGGGGTTTGTGTTTTG
ENST00000507439.5:c.437-1065_437-1064insGAGGGGTTTGTGTTTTG	ENSP00000423227.1:n.437-1065_437-1064insGAGGGGTTTGTGTTTTG
ENST00000508623.5:c.437-4574_437-4573insGAGGGGTTTGTGTTTTG	ENSP00000426377.1:n.437-4574_437-4573insGAGGGGTTTGTGTTTTG
ENST00000511609.1:n.277+422_277+423insGAGGGGTTTGTGTTTTG
ENST00000513615.5:c.437-1065_437-1064insGAGGGGTTTGTGTTTTG	ENSP00000422759.1:n.437-1065_437-1064insGAGGGGTTTGTGTTTTG
ENST00000514300.1:c.*368-1065_*368-1064insGAGGGGTTTGTGTTTTG	ENSP00000426039.1:n.*368-1065_*368-1064insGAGGGGTTTGTGTTTTG
NM_000320.2:c.545+422_545+423insGAGGGGTTTGTGTTTTG	NP_000311.2:n.545+422_545+423insGAGGGGTTTGTGTTTTG
NM_001306140.1:c.452+422_452+423insGAGGGGTTTGTGTTTTG	NP_001293069.1:n.452+422_452+423insGAGGGGTTTGTGTTTTG
XR_241677.1:n.600-1065_600-1064insGAGGGGTTTGTGTTTTG
NR_156494.1:n.617-1065_617-1064insGAGGGGTTTGTGTTTTG
NM_000320.3:c.545+422_545+423insGAGGGGTTTGTGTTTTG MANE Select	NP_000311.2:n.545+422_545+423insGAGGGGTTTGTGTTTTG
NM_001306140.2:c.452+422_452+423insGAGGGGTTTGTGTTTTG	NP_001293069.1:n.452+422_452+423insGAGGGGTTTGTGTTTTG
NR_156494.2:n.473-1065_473-1064insGAGGGGTTTGTGTTTTG