Canonical Allele Identifier: CA1288363424

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592851_130592852delinsAC , CM000664.2:g.130592851_130592852delinsAC	GRCh38
NC_000002.11:g.131350424_131350425delinsAC , CM000664.1:g.131350424_131350425delinsAC	GRCh37
NC_000002.10:g.131066894_131066895delinsAC	NCBI36
NG_008148.1:g.11658_11659delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.*25_*26delinsGT MANE Select	ENSP00000259216.5:n.*25_*26delinsGT
ENST00000259216.4:c.*25_*26delinsGT	ENSP00000259216.4:n.*25_*26delinsGT
ENST00000615342.4:c.*6_*7delinsGT	ENSP00000480526.1:n.*6_*7delinsGT
ENST00000621673.4:c.*25_*26delinsGT	ENSP00000480843.1:n.*25_*26delinsGT
NM_001270420.1:c.*6_*7delinsGT	NP_001257349.1:n.*6_*7delinsGT
NM_001270421.1:c.*25_*26delinsGT	NP_001257350.1:n.*25_*26delinsGT
NM_032545.3:c.*25_*26delinsGT	NP_115934.1:n.*25_*26delinsGT
NM_032545.4:c.*25_*26delinsGT MANE Select	NP_115934.1:n.*25_*26delinsGT
NM_001270420.2:c.*6_*7delinsGT	NP_001257349.1:n.*6_*7delinsGT
NM_001270421.2:c.*25_*26delinsGT	NP_001257350.1:n.*25_*26delinsGT