Canonical Allele Identifier: CA1441585935

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491940_17491949delinsGGAATGAGCC , CM000666.2:g.17491940_17491949delinsGGAATGAGCC	GRCh38
NC_000004.11:g.17493563_17493572delinsGGAATGAGCC , CM000666.1:g.17493563_17493572delinsGGAATGAGCC	GRCh37
NC_000004.10:g.17102661_17102670delinsGGAATGAGCC	NCBI36
NG_008763.1:g.25286_25295delinsGGCTCATTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+283_1592+292delinsGGCTCATTCC
ENST00000281243.10:c.545+283_545+292delinsGGCTCATTCC MANE Select	ENSP00000281243.5:n.545+283_545+292delinsGGCTCATTCC
ENST00000281243.9:c.545+283_545+292delinsGGCTCATTCC	ENSP00000281243.5:n.545+283_545+292delinsGGCTCATTCC
ENST00000428702.6:c.452+283_452+292delinsGGCTCATTCC	ENSP00000390944.2:n.452+283_452+292delinsGGCTCATTCC
ENST00000501943.6:n.282+283_282+292delinsGGCTCATTCC
ENST00000505710.1:c.364-1204_364-1195delinsGGCTCATTCC
ENST00000507439.5:c.437-1204_437-1195delinsGGCTCATTCC	ENSP00000423227.1:n.437-1204_437-1195delinsGGCTCATTCC
ENST00000508623.5:c.437-4713_437-4704delinsGGCTCATTCC	ENSP00000426377.1:n.437-4713_437-4704delinsGGCTCATTCC
ENST00000511609.1:n.277+283_277+292delinsGGCTCATTCC
ENST00000513615.5:c.437-1204_437-1195delinsGGCTCATTCC	ENSP00000422759.1:n.437-1204_437-1195delinsGGCTCATTCC
ENST00000514300.1:c.*368-1204_*368-1195delinsGGCTCATTCC	ENSP00000426039.1:n.*368-1204_*368-1195delinsGGCTCATTCC
NM_000320.2:c.545+283_545+292delinsGGCTCATTCC	NP_000311.2:n.545+283_545+292delinsGGCTCATTCC
NM_001306140.1:c.452+283_452+292delinsGGCTCATTCC	NP_001293069.1:n.452+283_452+292delinsGGCTCATTCC
XR_241677.1:n.600-1204_600-1195delinsGGCTCATTCC
NR_156494.1:n.617-1204_617-1195delinsGGCTCATTCC
NM_000320.3:c.545+283_545+292delinsGGCTCATTCC MANE Select	NP_000311.2:n.545+283_545+292delinsGGCTCATTCC
NM_001306140.2:c.452+283_452+292delinsGGCTCATTCC	NP_001293069.1:n.452+283_452+292delinsGGCTCATTCC
NR_156494.2:n.473-1204_473-1195delinsGGCTCATTCC