Canonical Allele Identifier: CA791226556

Gene: QDPR

Linked Data

• ClinVar Variation Id: 1705247
• ClinVar RCV Id: RCV002281877
• dbSNP Id: rs1444280419
• MyVariant Identifiers: chr4:g.17493884del (hg19) ; chr4:g.17492261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492261del , CM000666.2:g.17492261del	GRCh38
NC_000004.11:g.17493884del , CM000666.1:g.17493884del	GRCh37
NC_000004.10:g.17102982del	NCBI36
NG_008763.1:g.24974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1563del
ENST00000281243.10:c.516del MANE Select	ENSP00000281243.5:p.Ala175GlnfsTer15
ENST00000281243.9:c.516del	ENSP00000281243.5:p.Ala175GlnfsTer15
ENST00000428702.6:c.423del	ENSP00000390944.2:p.Ala144GlnfsTer15
ENST00000501943.6:n.253del
ENST00000505710.1:c.364-1516del
ENST00000507439.5:c.437-1516del	ENSP00000423227.1:n.437-1516del
ENST00000508623.5:c.437-5025del	ENSP00000426377.1:n.437-5025del
ENST00000511609.1:n.248del
ENST00000513615.5:c.437-1516del	ENSP00000422759.1:n.437-1516del
ENST00000514300.1:c.*368-1516del	ENSP00000426039.1:n.*368-1516del
NM_000320.2:c.516del	NP_000311.2:p.Ala175GlnfsTer15
NM_001306140.1:c.423del	NP_001293069.1:p.Ala144GlnfsTer15
XR_241677.1:n.600-1516del
NR_156494.1:n.617-1516del
NM_000320.3:c.516del MANE Select	NP_000311.2:p.Ala175GlnfsTer15
NM_001306140.2:c.423del	NP_001293069.1:p.Ala144GlnfsTer15
NR_156494.2:n.473-1516del