Canonical Allele Identifier: CA2742833118

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848705dup , CM000663.2:g.23848705dup	GRCh38
NC_000001.10:g.24175195dup , CM000663.1:g.24175195dup	GRCh37
NC_000001.9:g.24047782dup	NCBI36
NG_013346.1:g.24665dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1104dup MANE Select	ENSP00000363603.3:p.Ile369TyrfsTer?
ENST00000374479.3:c.1104dup	ENSP00000363603.3:p.Ile369TyrfsTer?
NM_000147.4:c.1104dup	NP_000138.2:p.Ile369TyrfsTer?
XM_005245821.1:c.729dup	XP_005245878.1:p.Ile244TyrfsTer?
XM_011541167.1:c.471dup	XP_011539469.1:p.Ile158TyrfsTer?
XM_005245821.3:c.729dup	XP_005245878.1:p.Ile244TyrfsTer?
XM_011541167.3:c.471dup	XP_011539469.1:p.Ile158TyrfsTer?
XM_017000905.2:c.801dup	XP_016856394.1:p.Ile268TyrfsTer?
NM_000147.5:c.1104dup MANE Select	NP_000138.2:p.Ile369TyrfsTer?
NR_174379.1:n.1282dup
NR_174380.1:n.1331dup
NR_174381.1:n.1170dup
NR_174382.1:n.1567dup