Canonical Allele Identifier: CA2670124488

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492496-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492502dup , CM000666.2:g.17492502dup	GRCh38
NC_000004.11:g.17494125dup , CM000666.1:g.17494125dup	GRCh37
NC_000004.10:g.17103223dup	NCBI36
NG_008763.1:g.24738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-157dup
ENST00000281243.10:c.437-157dup MANE Select	ENSP00000281243.5:n.437-157dup
ENST00000281243.9:c.437-157dup	ENSP00000281243.5:n.437-157dup
ENST00000428702.6:c.344-157dup	ENSP00000390944.2:n.344-157dup
ENST00000501943.6:n.17dup
ENST00000505710.1:c.364-1752dup
ENST00000507439.5:c.437-1752dup	ENSP00000423227.1:n.437-1752dup
ENST00000508623.5:c.437-5261dup	ENSP00000426377.1:n.437-5261dup
ENST00000511609.1:n.12dup
ENST00000513615.5:c.437-1752dup	ENSP00000422759.1:n.437-1752dup
ENST00000514300.1:c.*368-1752dup	ENSP00000426039.1:n.*368-1752dup
NM_000320.2:c.437-157dup	NP_000311.2:n.437-157dup
NM_001306140.1:c.344-157dup	NP_001293069.1:n.344-157dup
XR_241677.1:n.600-1752dup
NR_156494.1:n.617-1752dup
NM_000320.3:c.437-157dup MANE Select	NP_000311.2:n.437-157dup
NM_001306140.2:c.344-157dup	NP_001293069.1:n.344-157dup
NR_156494.2:n.473-1752dup