Canonical Allele Identifier: CA2586966194

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848751del , CM000663.2:g.23848751del	GRCh38
NC_000001.10:g.24175241del , CM000663.1:g.24175241del	GRCh37
NC_000001.9:g.24047828del	NCBI36
NG_013346.1:g.24621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1060del MANE Select	ENSP00000363603.3:p.Arg354GlyfsTer9
ENST00000374479.3:c.1060del	ENSP00000363603.3:p.Arg354GlyfsTer9
NM_000147.4:c.1060del	NP_000138.2:p.Arg354GlyfsTer9
XM_005245821.1:c.685del	XP_005245878.1:p.Arg229GlyfsTer9
XM_011541167.1:c.427del	XP_011539469.1:p.Arg143GlyfsTer9
XM_005245821.3:c.685del	XP_005245878.1:p.Arg229GlyfsTer9
XM_011541167.3:c.427del	XP_011539469.1:p.Arg143GlyfsTer9
XM_017000905.2:c.757del	XP_016856394.1:p.Arg253GlyfsTer9
NM_000147.5:c.1060del MANE Select	NP_000138.2:p.Arg354GlyfsTer9
NR_174379.1:n.1238del
NR_174380.1:n.1287del
NR_174381.1:n.1126del
NR_174382.1:n.1523del