Canonical Allele Identifier: CA2670124462

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492488-ACCCCCATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492489_17492496del , CM000666.2:g.17492489_17492496del	GRCh38
NC_000004.11:g.17494112_17494119del , CM000666.1:g.17494112_17494119del	GRCh37
NC_000004.10:g.17103210_17103217del	NCBI36
NG_008763.1:g.24739_24746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-156_1484-149del
ENST00000281243.10:c.437-156_437-149del MANE Select	ENSP00000281243.5:n.437-156_437-149del
ENST00000281243.9:c.437-156_437-149del	ENSP00000281243.5:n.437-156_437-149del
ENST00000428702.6:c.344-156_344-149del	ENSP00000390944.2:n.344-156_344-149del
ENST00000501943.6:n.18_25del
ENST00000505710.1:c.364-1751_364-1744del
ENST00000507439.5:c.437-1751_437-1744del	ENSP00000423227.1:n.437-1751_437-1744del
ENST00000508623.5:c.437-5260_437-5253del	ENSP00000426377.1:n.437-5260_437-5253del
ENST00000511609.1:n.13_20del
ENST00000513615.5:c.437-1751_437-1744del	ENSP00000422759.1:n.437-1751_437-1744del
ENST00000514300.1:c.*368-1751_*368-1744del	ENSP00000426039.1:n.*368-1751_*368-1744del
NM_000320.2:c.437-156_437-149del	NP_000311.2:n.437-156_437-149del
NM_001306140.1:c.344-156_344-149del	NP_001293069.1:n.344-156_344-149del
XR_241677.1:n.600-1751_600-1744del
NR_156494.1:n.617-1751_617-1744del
NM_000320.3:c.437-156_437-149del MANE Select	NP_000311.2:n.437-156_437-149del
NM_001306140.2:c.344-156_344-149del	NP_001293069.1:n.344-156_344-149del
NR_156494.2:n.473-1751_473-1744del