Canonical Allele Identifier: CA216920772
Gene: CDHR5 HGNC NCBI

Linked Data

dbSNP Id: rs34362213
MyVariant Identifiers: chr11:g.619005del (hg19) chr11:g.619005del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.619007del , CM000673.2:g.619007del GRCh38
NC_000011.9:g.619007del , CM000673.1:g.619007del GRCh37
NC_000011.8:g.609007del NCBI36
NG_029106.1:g.1995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358353.8:c.1536del ENSP00000351118.4:p.Pro516ArgfsTer?
ENST00000397542.7:c.1554del MANE Select ENSP00000380676.2:p.Pro522ArgfsTer?
ENST00000674088.1:c.1554del ENSP00000501074.1:p.Pro522ArgfsTer?
ENST00000349570.11:c.1378+301del ENSP00000345726.7:n.1378+301del
ENST00000358353.7:c.1554del ENSP00000351118.3:p.Pro522ArgfsTer?
ENST00000397542.6:c.1554del ENSP00000380676.2:p.Pro522ArgfsTer?
ENST00000531177.5:c.*1386del ENSP00000437255.1:n.*1386del
NM_001171968.1:c.1536del NP_001165439.1:p.Pro516ArgfsTer?
NM_021924.4:c.1554del NP_068743.2:p.Pro522ArgfsTer?
NM_031264.3:c.1378+301del NP_112554.2:n.1378+301del
XM_006718253.2:c.1379-65del XP_006718316.1:n.1379-65del
XM_011520188.1:c.1379-158del XP_011518490.1:n.1379-158del
XM_011520189.1:c.1379-251del XP_011518491.1:n.1379-251del
XM_011520190.1:c.1293+469del XP_011518492.1:n.1293+469del
XM_011520191.1:c.1378+301del XP_011518493.1:n.1378+301del
XM_006718253.3:c.1379-65del XP_006718316.1:n.1379-65del
XM_011520188.2:c.1379-158del XP_011518490.1:n.1379-158del
XM_011520189.2:c.1379-251del XP_011518491.1:n.1379-251del
XM_011520190.2:c.1293+469del XP_011518492.1:n.1293+469del
XM_011520191.2:c.1378+301del XP_011518493.1:n.1378+301del
XM_024448584.1:c.1554del XP_024304352.1:p.Pro522ArgfsTer?
NM_001171968.2:c.1536del NP_001165439.2:p.Pro516ArgfsTer?
NM_021924.5:c.1554del MANE Select NP_068743.3:p.Pro522ArgfsTer?
NM_031264.4:c.1378+301del NP_112554.3:n.1378+301del
NM_001171968.3:c.1536del NP_001165439.2:p.Pro516ArgfsTer?
NM_031264.5:c.1378+301del NP_112554.3:n.1378+301del
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