Canonical Allele Identifier: CA913089048

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350502_131350503insGGAC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592933_130592936dup , CM000664.2:g.130592933_130592936dup	GRCh38
NC_000002.11:g.131350506_131350509dup , CM000664.1:g.131350506_131350509dup	GRCh37
NC_000002.10:g.131066976_131066979dup	NCBI36
NG_008148.1:g.11577_11580dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.616_619dup MANE Select	ENSP00000259216.5:p.Leu207ArgfsTer30
ENST00000259216.4:c.616_619dup	ENSP00000259216.4:p.Leu207ArgfsTer30
ENST00000615342.4:c.501_504dup	ENSP00000480526.1:p.Ser169ValfsTer19
ENST00000621673.4:c.391_394dup	ENSP00000480843.1:p.Leu132ArgfsTer30
NM_001270420.1:c.501_504dup	NP_001257349.1:p.Ser169ValfsTer19
NM_001270421.1:c.391_394dup	NP_001257350.1:p.Leu132ArgfsTer30
NM_032545.3:c.616_619dup	NP_115934.1:p.Leu207ArgfsTer30
NM_032545.4:c.616_619dup MANE Select	NP_115934.1:p.Leu207ArgfsTer30
NM_001270420.2:c.501_504dup	NP_001257349.1:p.Ser169ValfsTer19
NM_001270421.2:c.391_394dup	NP_001257350.1:p.Leu132ArgfsTer30