Canonical Allele Identifier: CA2586966193

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848709del , CM000663.2:g.23848709del	GRCh38
NC_000001.10:g.24175199del , CM000663.1:g.24175199del	GRCh37
NC_000001.9:g.24047786del	NCBI36
NG_013346.1:g.24661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1100del MANE Select	ENSP00000363603.3:p.Glu367GlyfsTer?
ENST00000374479.3:c.1100del	ENSP00000363603.3:p.Glu367GlyfsTer?
NM_000147.4:c.1100del	NP_000138.2:p.Glu367GlyfsTer?
XM_005245821.1:c.725del	XP_005245878.1:p.Glu242GlyfsTer?
XM_011541167.1:c.467del	XP_011539469.1:p.Glu156GlyfsTer?
XM_005245821.3:c.725del	XP_005245878.1:p.Glu242GlyfsTer?
XM_011541167.3:c.467del	XP_011539469.1:p.Glu156GlyfsTer?
XM_017000905.2:c.797del	XP_016856394.1:p.Glu266GlyfsTer?
NM_000147.5:c.1100del MANE Select	NP_000138.2:p.Glu367GlyfsTer?
NR_174379.1:n.1278del
NR_174380.1:n.1327del
NR_174381.1:n.1166del
NR_174382.1:n.1563del