Canonical Allele Identifier: CA5681077
Community Standard Title: NM_025145.7(CFAP43):c.899_900del (p.Arg300LysfsTer22)
Gene: CFAP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104206027_104206028del , CM000672.2:g.104206027_104206028del GRCh38
NC_000010.10:g.105965785_105965786del , CM000672.1:g.105965785_105965786del GRCh37
NC_000010.9:g.105955775_105955776del NCBI36
NG_051581.1:g.31351_31352del

Transcript Alleles

HGVS Amino-acid Change
NM_025145.7:c.899_900del MANE Select NP_079421.5:p.Arg300LysfsTer22
ENST00000357060.8:c.899_900del MANE Select ENSP00000349568.3:p.Arg300LysfsTer22
NM_025145.5:c.899_900del NP_079421.5:p.Arg300LysfsTer22
NM_025145.6:c.899_900del NP_079421.5:p.Arg300LysfsTer22
ENST00000278064.6:c.692_693del ENSP00000278064.2:p.Arg231LysfsTer22
ENST00000278064.7:c.902_903del ENSP00000278064.3:p.Arg301LysfsTer22
ENST00000357060.7:c.899_900del ENSP00000349568.3:p.Arg300LysfsTer22
ENST00000369719.1:c.692_693del ENSP00000358733.1:p.Arg231LysfsTer22
ENST00000369719.2:c.902_903del ENSP00000358733.2:p.Arg301LysfsTer22
ENST00000369720.5:c.692_693del ENSP00000358734.1:p.Arg231LysfsTer22
ENST00000369720.6:c.902_903del ENSP00000358734.2:p.Arg301LysfsTer22
XM_005270171.1:c.902_903del XP_005270228.1:p.Arg301LysfsTer22
XM_005270171.2:c.902_903del XP_005270228.1:p.Arg301LysfsTer22
XM_005270172.2:c.902_903del XP_005270229.1:p.Arg301LysfsTer22
XM_005270172.3:c.902_903del XP_005270229.1:p.Arg301LysfsTer22
XM_011540196.1:c.902_903del XP_011538498.1:p.Arg301LysfsTer22
XM_011540196.2:c.902_903del XP_011538498.1:p.Arg301LysfsTer22
XM_011540197.1:c.902_903del XP_011538499.1:p.Arg301LysfsTer22
XM_011540197.2:c.902_903del XP_011538499.1:p.Arg301LysfsTer22
XM_011540198.1:c.902_903del XP_011538500.1:p.Arg301LysfsTer22
XM_011540198.2:c.902_903del XP_011538500.1:p.Arg301LysfsTer22
XM_011540199.1:c.902_903del XP_011538501.1:p.Arg301LysfsTer22
XM_011540199.2:c.902_903del XP_011538501.1:p.Arg301LysfsTer22
XM_011540200.1:c.902_903del XP_011538502.1:p.Arg301LysfsTer22
XM_011540200.2:c.902_903del XP_011538502.1:p.Arg301LysfsTer22
XM_011540201.1:c.902_903del XP_011538503.1:p.Arg301LysfsTer22
XM_011540201.2:c.902_903del XP_011538503.1:p.Arg301LysfsTer22
XM_011540202.1:c.131_132del XP_011538504.1:p.Arg44LysfsTer22
XM_011540202.2:c.131_132del XP_011538504.1:p.Arg44LysfsTer22
XM_017016681.1:c.899_900del XP_016872170.1:p.Arg300LysfsTer22
XM_017016682.1:c.902_903del XP_016872171.1:p.Arg301LysfsTer22
XM_017016684.1:c.902_903del XP_016872173.1:p.Arg301LysfsTer22
XR_002957015.1:n.785_786del