Canonical Allele Identifier: CA791226336

Gene: QDPR

Linked Data

• dbSNP Id: rs1446172037
• gnomAD v3: 4-17491947-G-GC
• gnomAD v4: 4-17491947-G-GC
• MyVariant Identifiers: chr4:g.17493570_17493571insC (hg19) ; chr4:g.17491947_17491948insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491950dup , CM000666.2:g.17491950dup	GRCh38
NC_000004.11:g.17493573dup , CM000666.1:g.17493573dup	GRCh37
NC_000004.10:g.17102671dup	NCBI36
NG_008763.1:g.25287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+284dup
ENST00000281243.10:c.545+284dup MANE Select	ENSP00000281243.5:n.545+284dup
ENST00000281243.9:c.545+284dup	ENSP00000281243.5:n.545+284dup
ENST00000428702.6:c.452+284dup	ENSP00000390944.2:n.452+284dup
ENST00000501943.6:n.282+284dup
ENST00000505710.1:c.364-1203dup
ENST00000507439.5:c.437-1203dup	ENSP00000423227.1:n.437-1203dup
ENST00000508623.5:c.437-4712dup	ENSP00000426377.1:n.437-4712dup
ENST00000511609.1:n.277+284dup
ENST00000513615.5:c.437-1203dup	ENSP00000422759.1:n.437-1203dup
ENST00000514300.1:c.*368-1203dup	ENSP00000426039.1:n.*368-1203dup
NM_000320.2:c.545+284dup	NP_000311.2:n.545+284dup
NM_001306140.1:c.452+284dup	NP_001293069.1:n.452+284dup
XR_241677.1:n.600-1203dup
NR_156494.1:n.617-1203dup
NM_000320.3:c.545+284dup MANE Select	NP_000311.2:n.545+284dup
NM_001306140.2:c.452+284dup	NP_001293069.1:n.452+284dup
NR_156494.2:n.473-1203dup