Canonical Allele Identifier: CA92593106

Gene: QDPR

Linked Data

• dbSNP Id: rs1044061182
• MyVariant Identifiers: chr4:g.17493449_17493454del (hg19) ; chr4:g.17491826_17491831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491827_17491832del , CM000666.2:g.17491827_17491832del	GRCh38
NC_000004.11:g.17493450_17493455del , CM000666.1:g.17493450_17493455del	GRCh37
NC_000004.10:g.17102548_17102553del	NCBI36
NG_008763.1:g.25404_25409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+401_1592+406del
ENST00000281243.10:c.545+401_545+406del MANE Select	ENSP00000281243.5:n.545+401_545+406del
ENST00000281243.9:c.545+401_545+406del	ENSP00000281243.5:n.545+401_545+406del
ENST00000428702.6:c.452+401_452+406del	ENSP00000390944.2:n.452+401_452+406del
ENST00000501943.6:n.282+401_282+406del
ENST00000505710.1:c.364-1086_364-1081del
ENST00000507439.5:c.437-1086_437-1081del	ENSP00000423227.1:n.437-1086_437-1081del
ENST00000508623.5:c.437-4595_437-4590del	ENSP00000426377.1:n.437-4595_437-4590del
ENST00000511609.1:n.277+401_277+406del
ENST00000513615.5:c.437-1086_437-1081del	ENSP00000422759.1:n.437-1086_437-1081del
ENST00000514300.1:c.*368-1086_*368-1081del	ENSP00000426039.1:n.*368-1086_*368-1081del
NM_000320.2:c.545+401_545+406del	NP_000311.2:n.545+401_545+406del
NM_001306140.1:c.452+401_452+406del	NP_001293069.1:n.452+401_452+406del
XR_241677.1:n.600-1086_600-1081del
NR_156494.1:n.617-1086_617-1081del
NM_000320.3:c.545+401_545+406del MANE Select	NP_000311.2:n.545+401_545+406del
NM_001306140.2:c.452+401_452+406del	NP_001293069.1:n.452+401_452+406del
NR_156494.2:n.473-1086_473-1081del