Canonical Allele Identifier: CA1059782921

Gene: QDPR

Linked Data

• dbSNP Id: rs1718173521
• gnomAD v3: 4-17491811-TAAG-T
• gnomAD v4: 4-17491811-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491813_17491815del , CM000666.2:g.17491813_17491815del	GRCh38
NC_000004.11:g.17493436_17493438del , CM000666.1:g.17493436_17493438del	GRCh37
NC_000004.10:g.17102534_17102536del	NCBI36
NG_008763.1:g.25421_25423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+418_1592+420del
ENST00000281243.10:c.545+418_545+420del MANE Select	ENSP00000281243.5:n.545+418_545+420del
ENST00000281243.9:c.545+418_545+420del	ENSP00000281243.5:n.545+418_545+420del
ENST00000428702.6:c.452+418_452+420del	ENSP00000390944.2:n.452+418_452+420del
ENST00000501943.6:n.282+418_282+420del
ENST00000505710.1:c.364-1069_364-1067del
ENST00000507439.5:c.437-1069_437-1067del	ENSP00000423227.1:n.437-1069_437-1067del
ENST00000508623.5:c.437-4578_437-4576del	ENSP00000426377.1:n.437-4578_437-4576del
ENST00000511609.1:n.277+418_277+420del
ENST00000513615.5:c.437-1069_437-1067del	ENSP00000422759.1:n.437-1069_437-1067del
ENST00000514300.1:c.*368-1069_*368-1067del	ENSP00000426039.1:n.*368-1069_*368-1067del
NM_000320.2:c.545+418_545+420del	NP_000311.2:n.545+418_545+420del
NM_001306140.1:c.452+418_452+420del	NP_001293069.1:n.452+418_452+420del
XR_241677.1:n.600-1069_600-1067del
NR_156494.1:n.617-1069_617-1067del
NM_000320.3:c.545+418_545+420del MANE Select	NP_000311.2:n.545+418_545+420del
NM_001306140.2:c.452+418_452+420del	NP_001293069.1:n.452+418_452+420del
NR_156494.2:n.473-1069_473-1067del