Canonical Allele Identifier: CA2752191865
Gene: CFC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592943del , CM000664.2:g.130592943del GRCh38
NC_000002.11:g.131350516del , CM000664.1:g.131350516del GRCh37
NC_000002.10:g.131066986del NCBI36
NG_008148.1:g.11568del

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.607del MANE Select ENSP00000259216.5:p.Val203SerfsTer28
ENST00000259216.4:c.607del ENSP00000259216.4:p.Val203SerfsTer28
ENST00000615342.4:c.492del ENSP00000480526.1:p.Trp164CysfsTer?
ENST00000621673.4:c.382del ENSP00000480843.1:p.Val128SerfsTer28
NM_001270420.1:c.492del NP_001257349.1:p.Trp164CysfsTer?
NM_001270421.1:c.382del NP_001257350.1:p.Val128SerfsTer28
NM_032545.3:c.607del NP_115934.1:p.Val203SerfsTer28
NM_032545.4:c.607del MANE Select NP_115934.1:p.Val203SerfsTer28
NM_001270420.2:c.492del NP_001257349.1:p.Trp164CysfsTer?
NM_001270421.2:c.382del NP_001257350.1:p.Val128SerfsTer28
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