Canonical Allele Identifier: CA2760590160

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492501_17492502insCAC , CM000666.2:g.17492501_17492502insCAC	GRCh38
NC_000004.11:g.17494124_17494125insCAC , CM000666.1:g.17494124_17494125insCAC	GRCh37
NC_000004.10:g.17103222_17103223insCAC	NCBI36
NG_008763.1:g.24733_24734insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-162_1484-161insGTG
ENST00000281243.10:c.437-162_437-161insGTG MANE Select	ENSP00000281243.5:n.437-162_437-161insGTG
ENST00000281243.9:c.437-162_437-161insGTG	ENSP00000281243.5:n.437-162_437-161insGTG
ENST00000428702.6:c.344-162_344-161insGTG	ENSP00000390944.2:n.344-162_344-161insGTG
ENST00000501943.6:n.12_13insGTG
ENST00000505710.1:c.364-1757_364-1756insGTG
ENST00000507439.5:c.437-1757_437-1756insGTG	ENSP00000423227.1:n.437-1757_437-1756insGTG
ENST00000508623.5:c.437-5266_437-5265insGTG	ENSP00000426377.1:n.437-5266_437-5265insGTG
ENST00000511609.1:n.7_8insGTG
ENST00000513615.5:c.437-1757_437-1756insGTG	ENSP00000422759.1:n.437-1757_437-1756insGTG
ENST00000514300.1:c.*368-1757_*368-1756insGTG	ENSP00000426039.1:n.*368-1757_*368-1756insGTG
NM_000320.2:c.437-162_437-161insGTG	NP_000311.2:n.437-162_437-161insGTG
NM_001306140.1:c.344-162_344-161insGTG	NP_001293069.1:n.344-162_344-161insGTG
XR_241677.1:n.600-1757_600-1756insGTG
NR_156494.1:n.617-1757_617-1756insGTG
NM_000320.3:c.437-162_437-161insGTG MANE Select	NP_000311.2:n.437-162_437-161insGTG
NM_001306140.2:c.344-162_344-161insGTG	NP_001293069.1:n.344-162_344-161insGTG
NR_156494.2:n.473-1757_473-1756insGTG