Canonical Allele Identifier: CA2648611110
Gene: CFAP45 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886549del , CM000663.2:g.159886549del GRCh38
NC_000001.10:g.159856339del , CM000663.1:g.159856339del GRCh37
NC_000001.9:g.158122963del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.730del MANE Select ENSP00000357079.4:p.Glu244ArgfsTer?
ENST00000368099.8:c.730del ENSP00000357079.4:p.Glu244ArgfsTer?
ENST00000426543.6:c.475del ENSP00000403044.2:p.Glu159ArgfsTer?
ENST00000476696.5:c.730del ENSP00000483972.1:p.Glu244ArgfsTer?
NM_012337.2:c.730del NP_036469.2:p.Glu244ArgfsTer?
NM_012337.3:c.730del MANE Select NP_036469.2:p.Glu244ArgfsTer?