Canonical Allele Identifier: CA2644084292

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848745-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848746dup , CM000663.2:g.23848746dup	GRCh38
NC_000001.10:g.24175236dup , CM000663.1:g.24175236dup	GRCh37
NC_000001.9:g.24047823dup	NCBI36
NG_013346.1:g.24624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1063dup MANE Select	ENSP00000363603.3:p.Leu355ProfsTer?
ENST00000374479.3:c.1063dup	ENSP00000363603.3:p.Leu355ProfsTer?
NM_000147.4:c.1063dup	NP_000138.2:p.Leu355ProfsTer?
XM_005245821.1:c.688dup	XP_005245878.1:p.Leu230ProfsTer?
XM_011541167.1:c.430dup	XP_011539469.1:p.Leu144ProfsTer?
XM_005245821.3:c.688dup	XP_005245878.1:p.Leu230ProfsTer?
XM_011541167.3:c.430dup	XP_011539469.1:p.Leu144ProfsTer?
XM_017000905.2:c.760dup	XP_016856394.1:p.Leu254ProfsTer?
NM_000147.5:c.1063dup MANE Select	NP_000138.2:p.Leu355ProfsTer?
NR_174379.1:n.1241dup
NR_174380.1:n.1290dup
NR_174381.1:n.1129dup
NR_174382.1:n.1526dup