Canonical Allele Identifier: CA756951574

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130597969_130597976del , CM000664.2:g.130597969_130597976del	GRCh38
NC_000002.11:g.131355542_131355549del , CM000664.1:g.131355542_131355549del	GRCh37
NC_000002.10:g.131072012_131072019del	NCBI36
NG_008148.1:g.6540_6547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.260_267del MANE Select	ENSP00000259216.5:p.Arg87LeufsTer28
ENST00000259216.4:c.260_267del	ENSP00000259216.4:p.Arg87LeufsTer28
ENST00000615342.4:c.248-367_248-360del	ENSP00000480526.1:n.248-367_248-360del
ENST00000621673.4:c.247+672_247+679del	ENSP00000480843.1:n.247+672_247+679del
NM_001270420.1:c.248-367_248-360del	NP_001257349.1:n.248-367_248-360del
NM_001270421.1:c.247+672_247+679del	NP_001257350.1:n.247+672_247+679del
NM_032545.3:c.260_267del	NP_115934.1:p.Arg87LeufsTer28
NM_032545.4:c.260_267del MANE Select	NP_115934.1:p.Arg87LeufsTer28
NM_001270420.2:c.248-367_248-360del	NP_001257349.1:n.248-367_248-360del
NM_001270421.2:c.247+672_247+679del	NP_001257350.1:n.247+672_247+679del