Canonical Allele Identifier: CA2573129711
Community Standard Title: NM_025145.7(CFAP43):c.3882del (p.Glu1294AspfsTer?)
Gene: CFAP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104145539del , CM000672.2:g.104145539del GRCh38
NC_000010.10:g.105905297del , CM000672.1:g.105905297del GRCh37
NC_000010.9:g.105895287del NCBI36
NG_051581.1:g.91840del

Transcript Alleles

HGVS Amino-acid Change
NM_025145.7:c.3882del MANE Select NP_079421.5:p.Glu1294AspfsTer?
ENST00000357060.8:c.3882del MANE Select ENSP00000349568.3:p.Glu1294AspfsTer?
NM_025145.5:c.3882del NP_079421.5:p.Glu1294AspfsTer?
NM_025145.6:c.3882del NP_079421.5:p.Glu1294AspfsTer?
ENST00000357060.7:c.3882del ENSP00000349568.3:p.Glu1294AspfsTer?
ENST00000434629.5:c.1877del
ENST00000457071.5:c.428del
XM_005270171.1:c.3885del XP_005270228.1:p.Glu1295AspfsTer?
XM_005270171.2:c.3885del XP_005270228.1:p.Glu1295AspfsTer?
XM_005270172.2:c.3798del XP_005270229.1:p.Glu1266AspfsTer?
XM_005270172.3:c.3798del XP_005270229.1:p.Glu1266AspfsTer?
XM_011540196.1:c.3999del XP_011538498.1:p.Glu1333AspfsTer?
XM_011540196.2:c.3999del XP_011538498.1:p.Glu1333AspfsTer?
XM_011540197.1:c.3912del XP_011538499.1:p.Glu1304AspfsTer?
XM_011540197.2:c.3912del XP_011538499.1:p.Glu1304AspfsTer?
XM_011540198.1:c.3882del XP_011538500.1:p.Glu1294AspfsTer?
XM_011540198.2:c.3882del XP_011538500.1:p.Glu1294AspfsTer?
XM_011540199.1:c.3882del XP_011538501.1:p.Glu1294AspfsTer?
XM_011540199.2:c.3882del XP_011538501.1:p.Glu1294AspfsTer?
XM_011540200.1:c.3778-3145del XP_011538502.1:n.3778-3145del
XM_011540200.2:c.3778-3145del XP_011538502.1:n.3778-3145del
XM_011540201.1:c.3999del XP_011538503.1:p.Glu1333AspfsTer?
XM_011540201.2:c.3999del XP_011538503.1:p.Glu1333AspfsTer?
XM_011540202.1:c.3228del XP_011538504.1:p.Glu1076AspfsTer?
XM_011540202.2:c.3228del XP_011538504.1:p.Glu1076AspfsTer?
XM_011540203.1:c.1782del XP_011538505.1:p.Glu594AspfsTer?
XM_017016681.1:c.3996del XP_016872170.1:p.Glu1332AspfsTer?
XM_017016682.1:c.3651del XP_016872171.1:p.Glu1217AspfsTer?
XM_024448177.1:c.2385del XP_024303945.1:p.Glu795AspfsTer?
XM_024448178.1:c.1782del XP_024303946.1:p.Glu594AspfsTer?
XR_002957015.1:n.6007del