Canonical Allele Identifier: CA2661125015
Gene: CFC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592944_130592950dup , CM000664.2:g.130592944_130592950dup GRCh38
NC_000002.11:g.131350517_131350523dup , CM000664.1:g.131350517_131350523dup GRCh37
NC_000002.10:g.131066987_131066993dup NCBI36
NG_008148.1:g.11567_11573dup

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.606_612dup MANE Select ENSP00000259216.5:p.Ser205GlyfsTer?
ENST00000259216.4:c.606_612dup ENSP00000259216.4:p.Ser205GlyfsTer?
ENST00000615342.4:c.491_497dup ENSP00000480526.1:p.Pro167ValfsTer22
ENST00000621673.4:c.381_387dup ENSP00000480843.1:p.Ser130GlyfsTer?
NM_001270420.1:c.491_497dup NP_001257349.1:p.Pro167ValfsTer22
NM_001270421.1:c.381_387dup NP_001257350.1:p.Ser130GlyfsTer?
NM_032545.3:c.606_612dup NP_115934.1:p.Ser205GlyfsTer?
NM_032545.4:c.606_612dup MANE Select NP_115934.1:p.Ser205GlyfsTer?
NM_001270420.2:c.491_497dup NP_001257349.1:p.Pro167ValfsTer22
NM_001270421.2:c.381_387dup NP_001257350.1:p.Ser130GlyfsTer?