Canonical Allele Identifier: CA1873123

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130598808_130598809del , CM000664.2:g.130598808_130598809del	GRCh38
NC_000002.11:g.131356381_131356382del , CM000664.1:g.131356381_131356382del	GRCh37
NC_000002.10:g.131072851_131072852del	NCBI36
NG_008148.1:g.5702_5703del

Transcript Alleles

HGVS	Amino-acid Change
NM_032545.4:c.81_82del MANE Select	NP_115934.1:p.Lys30ThrfsTer2
ENST00000259216.6:c.81_82del MANE Select	ENSP00000259216.5:p.Lys30ThrfsTer2
NM_001270420.1:c.81_82del	NP_001257349.1:p.Lys30ThrfsTer2
NM_001270420.2:c.81_82del	NP_001257349.1:p.Lys30ThrfsTer2
NM_001270421.1:c.81_82del	NP_001257350.1:p.Lys30ThrfsTer2
NM_001270421.2:c.81_82del	NP_001257350.1:p.Lys30ThrfsTer2
NM_032545.3:c.81_82del	NP_115934.1:p.Lys30ThrfsTer2
ENST00000259216.4:c.81_82del	ENSP00000259216.4:p.Lys30ThrfsTer2
ENST00000615342.4:c.81_82del	ENSP00000480526.1:p.Lys30ThrfsTer2
ENST00000621673.4:c.81_82del	ENSP00000480843.1:p.Lys30ThrfsTer2
XM_011511486.1:c.81_82del	XP_011509788.1:p.Lys30ThrfsTer2
XM_011511486.3:c.81_82del	XP_011509788.1:p.Lys30ThrfsTer2