Canonical Allele Identifier: CA224385699
Community Standard Title: NM_001258392.3(CLPB):c.1680+84_1680+85dup
Gene: CLPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72294246_72294247dup , CM000673.2:g.72294246_72294247dup GRCh38
NC_000011.9:g.72005290_72005291dup , CM000673.1:g.72005290_72005291dup GRCh37
NC_000011.8:g.71682938_71682939dup NCBI36
NG_042130.1:g.145444_145445dup
NG_042130.2:g.145444_145445dup

Transcript Alleles

HGVS Amino-acid Change
NM_001258392.3:c.1680+84_1680+85dup MANE Select NP_001245321.1:n.1680+84_1680+85dup
ENST00000538039.6:c.1680+84_1680+85dup MANE Select ENSP00000441518.1:n.1680+84_1680+85dup
NM_030813.6:c.1770+84_1770+85dup MANE Plus Clinical NP_110440.1:n.1770+84_1770+85dup
ENST00000294053.9:c.1770+84_1770+85dup MANE Plus Clinical ENSP00000294053.3:n.1770+84_1770+85dup
NM_001258392.1:c.1680+84_1680+85dup NP_001245321.1:n.1680+84_1680+85dup
NM_001258392.2:c.1680+84_1680+85dup NP_001245321.1:n.1680+84_1680+85dup
NM_001258393.1:c.1593+84_1593+85dup NP_001245322.1:n.1593+84_1593+85dup
NM_001258393.2:c.1593+84_1593+85dup NP_001245322.1:n.1593+84_1593+85dup
NM_001258393.3:c.1593+84_1593+85dup NP_001245322.1:n.1593+84_1593+85dup
NM_001258394.1:c.1635+84_1635+85dup NP_001245323.1:n.1635+84_1635+85dup
NM_001258394.2:c.1635+84_1635+85dup NP_001245323.1:n.1635+84_1635+85dup
NM_001258394.3:c.1635+84_1635+85dup NP_001245323.1:n.1635+84_1635+85dup
NM_030813.4:c.1770+84_1770+85dup NP_110440.1:n.1770+84_1770+85dup
NM_030813.5:c.1770+84_1770+85dup NP_110440.1:n.1770+84_1770+85dup
ENST00000294053.7:c.1770+84_1770+85dup ENSP00000294053.3:n.1770+84_1770+85dup
ENST00000340729.9:c.1593+84_1593+85dup ENSP00000340385.5:n.1593+84_1593+85dup
ENST00000437826.6:c.1635+84_1635+85dup ENSP00000407296.2:n.1635+84_1635+85dup
ENST00000535477.5:c.*100+84_*100+85dup ENSP00000440423.1:n.*100+84_*100+85dup
ENST00000535477.6:c.*1105+84_*1105+85dup ENSP00000440423.2:n.*1105+84_*1105+85dup
ENST00000535990.5:c.1785+84_1785+85dup ENSP00000443822.1:n.1785+84_1785+85dup
ENST00000535990.6:c.*1370+84_*1370+85dup ENSP00000443822.2:n.*1370+84_*1370+85dup
ENST00000538021.5:c.697+84_697+85dup ENSP00000445180.2:n.697+84_697+85dup
ENST00000538039.5:c.1680+84_1680+85dup ENSP00000441518.1:n.1680+84_1680+85dup
ENST00000543042.5:c.1167+84_1167+85dup ENSP00000439746.1:n.1167+84_1167+85dup
ENST00000543042.6:c.1725+84_1725+85dup ENSP00000439746.2:n.1725+84_1725+85dup
ENST00000642187.1:c.1188+84_1188+85dup ENSP00000494594.1:n.1188+84_1188+85dup
ENST00000645105.1:n.1098+84_1098+85dup
ENST00000646359.1:n.858+84_858+85dup
ENST00000695924.1:n.2549+84_2549+85dup
ENST00000695925.1:n.3147_3148dup
XM_005274320.1:c.1683+84_1683+85dup XP_005274377.1:n.1683+84_1683+85dup
XM_011545288.1:c.1725+84_1725+85dup XP_011543590.1:n.1725+84_1725+85dup