Canonical Allele Identifier: CA2661125016

Gene: CFC1

Linked Data

• gnomAD v4: 2-130592936-AAGGGACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592944_130592950del , CM000664.2:g.130592944_130592950del	GRCh38
NC_000002.11:g.131350517_131350523del , CM000664.1:g.131350517_131350523del	GRCh37
NC_000002.10:g.131066987_131066993del	NCBI36
NG_008148.1:g.11567_11573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.606_612del MANE Select	ENSP00000259216.5:p.Val203ProfsTer26
ENST00000259216.4:c.606_612del	ENSP00000259216.4:p.Val203ProfsTer26
ENST00000615342.4:c.491_497del	ENSP00000480526.1:p.Trp164PhefsTer?
ENST00000621673.4:c.381_387del	ENSP00000480843.1:p.Val128ProfsTer26
NM_001270420.1:c.491_497del	NP_001257349.1:p.Trp164PhefsTer?
NM_001270421.1:c.381_387del	NP_001257350.1:p.Val128ProfsTer26
NM_032545.3:c.606_612del	NP_115934.1:p.Val203ProfsTer26
NM_032545.4:c.606_612del MANE Select	NP_115934.1:p.Val203ProfsTer26
NM_001270420.2:c.491_497del	NP_001257349.1:p.Trp164PhefsTer?
NM_001270421.2:c.381_387del	NP_001257350.1:p.Val128ProfsTer26