Canonical Allele Identifier: CA2760590157
Gene: QDPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492499_17492500insCACACCC , CM000666.2:g.17492499_17492500insCACACCC GRCh38
NC_000004.11:g.17494122_17494123insCACACCC , CM000666.1:g.17494122_17494123insCACACCC GRCh37
NC_000004.10:g.17103220_17103221insCACACCC NCBI36
NG_008763.1:g.24735_24736insGGGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1484-160_1484-159insGGGTGTG
ENST00000281243.10:c.437-160_437-159insGGGTGTG MANE Select ENSP00000281243.5:n.437-160_437-159insGGGTGTG
ENST00000281243.9:c.437-160_437-159insGGGTGTG ENSP00000281243.5:n.437-160_437-159insGGGTGTG
ENST00000428702.6:c.344-160_344-159insGGGTGTG ENSP00000390944.2:n.344-160_344-159insGGGTGTG
ENST00000501943.6:n.14_15insGGGTGTG
ENST00000505710.1:c.364-1755_364-1754insGGGTGTG
ENST00000507439.5:c.437-1755_437-1754insGGGTGTG ENSP00000423227.1:n.437-1755_437-1754insGGGTGTG
ENST00000508623.5:c.437-5264_437-5263insGGGTGTG ENSP00000426377.1:n.437-5264_437-5263insGGGTGTG
ENST00000511609.1:n.9_10insGGGTGTG
ENST00000513615.5:c.437-1755_437-1754insGGGTGTG ENSP00000422759.1:n.437-1755_437-1754insGGGTGTG
ENST00000514300.1:c.*368-1755_*368-1754insGGGTGTG ENSP00000426039.1:n.*368-1755_*368-1754insGGGTGTG
NM_000320.2:c.437-160_437-159insGGGTGTG NP_000311.2:n.437-160_437-159insGGGTGTG
NM_001306140.1:c.344-160_344-159insGGGTGTG NP_001293069.1:n.344-160_344-159insGGGTGTG
XR_241677.1:n.600-1755_600-1754insGGGTGTG
NR_156494.1:n.617-1755_617-1754insGGGTGTG
NM_000320.3:c.437-160_437-159insGGGTGTG MANE Select NP_000311.2:n.437-160_437-159insGGGTGTG
NM_001306140.2:c.344-160_344-159insGGGTGTG NP_001293069.1:n.344-160_344-159insGGGTGTG
NR_156494.2:n.473-1755_473-1754insGGGTGTG