Canonical Allele Identifier: CA2705191625
Gene: QDPR HGNC NCBI

Linked Data

dbSNP Id: rs2108987739

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492341_17492342insAGGAGTCCCATCCAGGGCAGCCTT , CM000666.2:g.17492341_17492342insAGGAGTCCCATCCAGGGCAGCCTT GRCh38
NC_000004.11:g.17493964_17493965insAGGAGTCCCATCCAGGGCAGCCTT , CM000666.1:g.17493964_17493965insAGGAGTCCCATCCAGGGCAGCCTT GRCh37
NC_000004.10:g.17103062_17103063insAGGAGTCCCATCCAGGGCAGCCTT NCBI36
NG_008763.1:g.24893_24894insAAGGCTGCCCTGGATGGGACTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1484-2_1484-1insAAGGCTGCCCTGGATGGGACTCCT
ENST00000281243.10:c.437-2_437-1insAAGGCTGCCCTGGATGGGACTCCT MANE Select ENSP00000281243.5:n.437-2_437-1insAAGGCTGCCCTGGATGGGACTCCT
ENST00000281243.9:c.437-2_437-1insAAGGCTGCCCTGGATGGGACTCCT ENSP00000281243.5:n.437-2_437-1insAAGGCTGCCCTGGATGGGACTCCT
ENST00000428702.6:c.344-2_344-1insAAGGCTGCCCTGGATGGGACTCCT ENSP00000390944.2:n.344-2_344-1insAAGGCTGCCCTGGATGGGACTCCT
ENST00000501943.6:n.172_173insAAGGCTGCCCTGGATGGGACTCCT
ENST00000505710.1:c.364-1597_364-1596insAAGGCTGCCCTGGATGGGACTCCT
ENST00000507439.5:c.437-1597_437-1596insAAGGCTGCCCTGGATGGGACTCCT ENSP00000423227.1:n.437-1597_437-1596insAAGGCTGCCCTGGATGGGACT...
ENST00000508623.5:c.437-5106_437-5105insAAGGCTGCCCTGGATGGGACTCCT ENSP00000426377.1:n.437-5106_437-5105insAAGGCTGCCCTGGATGGGACT...
ENST00000511609.1:n.167_168insAAGGCTGCCCTGGATGGGACTCCT
ENST00000513615.5:c.437-1597_437-1596insAAGGCTGCCCTGGATGGGACTCCT ENSP00000422759.1:n.437-1597_437-1596insAAGGCTGCCCTGGATGGGACT...
ENST00000514300.1:c.*368-1597_*368-1596insAAGGCTGCCCTGGATGGGACTCCT ENSP00000426039.1:n.*368-1597_*368-1596insAAGGCTGCCCTGGATGGGA...
NM_000320.2:c.437-2_437-1insAAGGCTGCCCTGGATGGGACTCCT NP_000311.2:n.437-2_437-1insAAGGCTGCCCTGGATGGGACTCCT
NM_001306140.1:c.344-2_344-1insAAGGCTGCCCTGGATGGGACTCCT NP_001293069.1:n.344-2_344-1insAAGGCTGCCCTGGATGGGACTCCT
XR_241677.1:n.600-1597_600-1596insAAGGCTGCCCTGGATGGGACTCCT
NR_156494.1:n.617-1597_617-1596insAAGGCTGCCCTGGATGGGACTCCT
NM_000320.3:c.437-2_437-1insAAGGCTGCCCTGGATGGGACTCCT MANE Select NP_000311.2:n.437-2_437-1insAAGGCTGCCCTGGATGGGACTCCT
NM_001306140.2:c.344-2_344-1insAAGGCTGCCCTGGATGGGACTCCT NP_001293069.1:n.344-2_344-1insAAGGCTGCCCTGGATGGGACTCCT
NR_156494.2:n.473-1597_473-1596insAAGGCTGCCCTGGATGGGACTCCT