Canonical Allele Identifier: CA92593824

Gene: QDPR

Linked Data

• dbSNP Id: rs921765017
• gnomAD v2: 4-17494080-GCCT-G
• gnomAD v3: 4-17492457-GCCT-G
• gnomAD v4: 4-17492457-GCCT-G
• MyVariant Identifiers: chr4:g.17494081_17494083del (hg19) ; chr4:g.17492458_17492460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492464_17492466del , CM000666.2:g.17492464_17492466del	GRCh38
NC_000004.11:g.17494087_17494089del , CM000666.1:g.17494087_17494089del	GRCh37
NC_000004.10:g.17103185_17103187del	NCBI36
NG_008763.1:g.24775_24777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-120_1484-118del
ENST00000281243.10:c.437-120_437-118del MANE Select	ENSP00000281243.5:n.437-120_437-118del
ENST00000281243.9:c.437-120_437-118del	ENSP00000281243.5:n.437-120_437-118del
ENST00000428702.6:c.344-120_344-118del	ENSP00000390944.2:n.344-120_344-118del
ENST00000501943.6:n.54_56del
ENST00000505710.1:c.364-1715_364-1713del
ENST00000507439.5:c.437-1715_437-1713del	ENSP00000423227.1:n.437-1715_437-1713del
ENST00000508623.5:c.437-5224_437-5222del	ENSP00000426377.1:n.437-5224_437-5222del
ENST00000511609.1:n.49_51del
ENST00000513615.5:c.437-1715_437-1713del	ENSP00000422759.1:n.437-1715_437-1713del
ENST00000514300.1:c.*368-1715_*368-1713del	ENSP00000426039.1:n.*368-1715_*368-1713del
NM_000320.2:c.437-120_437-118del	NP_000311.2:n.437-120_437-118del
NM_001306140.1:c.344-120_344-118del	NP_001293069.1:n.344-120_344-118del
XR_241677.1:n.600-1715_600-1713del
NR_156494.1:n.617-1715_617-1713del
NM_000320.3:c.437-120_437-118del MANE Select	NP_000311.2:n.437-120_437-118del
NM_001306140.2:c.344-120_344-118del	NP_001293069.1:n.344-120_344-118del
NR_156494.2:n.473-1715_473-1713del