Canonical Allele Identifier: CA791226386

Gene: QDPR

Linked Data

• dbSNP Id: rs1417091728
• gnomAD v3: 4-17492082-GATA-G
• gnomAD v4: 4-17492082-GATA-G
• MyVariant Identifiers: chr4:g.17493706_17493708del (hg19) ; chr4:g.17492083_17492085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492087_17492089del , CM000666.2:g.17492087_17492089del	GRCh38
NC_000004.11:g.17493710_17493712del , CM000666.1:g.17493710_17493712del	GRCh37
NC_000004.10:g.17102808_17102810del	NCBI36
NG_008763.1:g.25150_25152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+147_1592+149del
ENST00000281243.10:c.545+147_545+149del MANE Select	ENSP00000281243.5:n.545+147_545+149del
ENST00000281243.9:c.545+147_545+149del	ENSP00000281243.5:n.545+147_545+149del
ENST00000428702.6:c.452+147_452+149del	ENSP00000390944.2:n.452+147_452+149del
ENST00000501943.6:n.282+147_282+149del
ENST00000505710.1:c.364-1340_364-1338del
ENST00000507439.5:c.437-1340_437-1338del	ENSP00000423227.1:n.437-1340_437-1338del
ENST00000508623.5:c.437-4849_437-4847del	ENSP00000426377.1:n.437-4849_437-4847del
ENST00000511609.1:n.277+147_277+149del
ENST00000513615.5:c.437-1340_437-1338del	ENSP00000422759.1:n.437-1340_437-1338del
ENST00000514300.1:c.*368-1340_*368-1338del	ENSP00000426039.1:n.*368-1340_*368-1338del
NM_000320.2:c.545+147_545+149del	NP_000311.2:n.545+147_545+149del
NM_001306140.1:c.452+147_452+149del	NP_001293069.1:n.452+147_452+149del
XR_241677.1:n.600-1340_600-1338del
NR_156494.1:n.617-1340_617-1338del
NM_000320.3:c.545+147_545+149del MANE Select	NP_000311.2:n.545+147_545+149del
NM_001306140.2:c.452+147_452+149del	NP_001293069.1:n.452+147_452+149del
NR_156494.2:n.473-1340_473-1338del