Canonical Allele Identifier: CA2648611245

Gene: CFAP45

Linked Data

• gnomAD v4: 1-159886820-T-TATAAAGGGAAGGAGACAGCATTTTCCAGGAGGAAAAGGAAAGAAAAGGGTATTCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159886821_159886822insTAAAGGGAAGGAGACAGCATTTTCCAGGAGGAAAAGGAAAGAAAAGGGTATTCAAAA , CM000663.2:g.159886821_159886822insTAAAGGGAAGGAGACAGCATTTTCCAGGAGGAAAAGGAAAGAAAAGGGTATTCAAAA	GRCh38
NC_000001.10:g.159856611_159856612insTAAAGGGAAGGAGACAGCATTTTCCAGGAGGAAAAGGAAAGAAAAGGGTATTCAAAA , CM000663.1:g.159856611_159856612insTAAAGGGAAGGAGACAGCATTTTCCAGGAGGAAAAGGAAAGAAAAGGGTATTCAAAA	GRCh37
NC_000001.9:g.158123235_158123236insTAAAGGGAAGGAGACAGCATTTTCCAGGAGGAAAAGGAAAGAAAAGGGTATTCAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368099.9:c.589-132_589-131insTTTGAATACCCTTTTCTTTCCTTTTCCTCCTGGAAAATGCTGTCTCCTTCCCTTTAT MANE Select	ENSP00000357079.4:n.589-132_589-131insTTTGAATACCCTTTTCTTTCCTT...
ENST00000368099.8:c.589-132_589-131insTTTGAATACCCTTTTCTTTCCTTTTCCTCCTGGAAAATGCTGTCTCCTTCCCTTTAT	ENSP00000357079.4:n.589-132_589-131insTTTGAATACCCTTTTCTTTCCTT...
ENST00000426543.6:c.334-132_334-131insTTTGAATACCCTTTTCTTTCCTTTTCCTCCTGGAAAATGCTGTCTCCTTCCCTTTAT	ENSP00000403044.2:n.334-132_334-131insTTTGAATACCCTTTTCTTTCCTT...
ENST00000476696.5:c.589-132_589-131insTTTGAATACCCTTTTCTTTCCTTTTCCTCCTGGAAAATGCTGTCTCCTTCCCTTTAT	ENSP00000483972.1:n.589-132_589-131insTTTGAATACCCTTTTCTTTCCTT...
ENST00000479940.2:c.334-132_334-131insTTTGAATACCCTTTTCTTTCCTTTTCCTCCTGGAAAATGCTGTCTCCTTCCCTTTAT	ENSP00000478944.1:n.334-132_334-131insTTTGAATACCCTTTTCTTTCCTT...
NM_012337.2:c.589-132_589-131insTTTGAATACCCTTTTCTTTCCTTTTCCTCCTGGAAAATGCTGTCTCCTTCCCTTTAT	NP_036469.2:n.589-132_589-131insTTTGAATACCCTTTTCTTTCCTTTTCCTC...
NM_012337.3:c.589-132_589-131insTTTGAATACCCTTTTCTTTCCTTTTCCTCCTGGAAAATGCTGTCTCCTTCCCTTTAT MANE Select	NP_036469.2:n.589-132_589-131insTTTGAATACCCTTTTCTTTCCTTTTCCTC...