Canonical Allele Identifier: CA2574913416
Gene: CLPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72294048del , CM000673.2:g.72294048del GRCh38
NC_000011.9:g.72005092del , CM000673.1:g.72005092del GRCh37
NC_000011.8:g.71682740del NCBI36
NG_042130.1:g.145637del
NG_042130.2:g.145637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000535990.6:c.*1449del ENSP00000443822.2:n.*1449del
ENST00000695924.1:n.2628del
ENST00000695925.1:n.3340del
ENST00000294053.9:c.1849del MANE Plus Clinical ENSP00000294053.3:p.Tyr617MetfsTer10
ENST00000535477.6:c.*1184del ENSP00000440423.2:n.*1184del
ENST00000538039.6:c.1759del MANE Select ENSP00000441518.1:p.Tyr587MetfsTer10
ENST00000543042.6:c.1804del ENSP00000439746.2:p.Tyr602MetfsTer10
ENST00000642187.1:c.1267del ENSP00000494594.1:n.1267del
ENST00000645105.1:n.1177del
ENST00000646359.1:n.937del
ENST00000294053.7:c.1849del ENSP00000294053.3:p.Tyr617MetfsTer10
ENST00000340729.9:c.1672del ENSP00000340385.5:p.Tyr558MetfsTer10
ENST00000437826.6:c.1714del ENSP00000407296.2:p.Tyr572MetfsTer10
ENST00000535477.5:c.*179del ENSP00000440423.1:n.*179del
ENST00000535990.5:c.1864del ENSP00000443822.1:p.Tyr622MetfsTer10
ENST00000538021.5:c.776del ENSP00000445180.2:n.776del
ENST00000538039.5:c.1759del ENSP00000441518.1:p.Tyr587MetfsTer10
ENST00000543042.5:c.1246del ENSP00000439746.1:p.Tyr416MetfsTer10
NM_001258392.1:c.1759del NP_001245321.1:p.Tyr587MetfsTer10
NM_001258392.2:c.1759del NP_001245321.1:p.Tyr587MetfsTer10
NM_001258393.1:c.1672del NP_001245322.1:p.Tyr558MetfsTer10
NM_001258393.2:c.1672del NP_001245322.1:p.Tyr558MetfsTer10
NM_001258394.1:c.1714del NP_001245323.1:p.Tyr572MetfsTer10
NM_001258394.2:c.1714del NP_001245323.1:p.Tyr572MetfsTer10
NM_030813.4:c.1849del NP_110440.1:p.Tyr617MetfsTer10
NM_030813.5:c.1849del NP_110440.1:p.Tyr617MetfsTer10
XM_005274320.1:c.1762del XP_005274377.1:p.Tyr588MetfsTer10
XM_011545288.1:c.1804del XP_011543590.1:p.Tyr602MetfsTer10
NM_001258392.3:c.1759del MANE Select NP_001245321.1:p.Tyr587MetfsTer10
NM_001258393.3:c.1672del NP_001245322.1:p.Tyr558MetfsTer10
NM_030813.6:c.1849del MANE Plus Clinical NP_110440.1:p.Tyr617MetfsTer10
NM_001258394.3:c.1714del NP_001245323.1:p.Tyr572MetfsTer10