Canonical Allele Identifier: CA2529926252

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848709-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848712_23848713dup , CM000663.2:g.23848712_23848713dup	GRCh38
NC_000001.10:g.24175202_24175203dup , CM000663.1:g.24175202_24175203dup	GRCh37
NC_000001.9:g.24047789_24047790dup	NCBI36
NG_013346.1:g.24659_24660dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1098_1099dup MANE Select	ENSP00000363603.3:p.Glu367GlyfsTer?
ENST00000374479.3:c.1098_1099dup	ENSP00000363603.3:p.Glu367GlyfsTer?
NM_000147.4:c.1098_1099dup	NP_000138.2:p.Glu367GlyfsTer?
XM_005245821.1:c.723_724dup	XP_005245878.1:p.Glu242GlyfsTer?
XM_011541167.1:c.465_466dup	XP_011539469.1:p.Glu156GlyfsTer?
XM_005245821.3:c.723_724dup	XP_005245878.1:p.Glu242GlyfsTer?
XM_011541167.3:c.465_466dup	XP_011539469.1:p.Glu156GlyfsTer?
XM_017000905.2:c.795_796dup	XP_016856394.1:p.Glu266GlyfsTer?
NM_000147.5:c.1098_1099dup MANE Select	NP_000138.2:p.Glu367GlyfsTer?
NR_174379.1:n.1276_1277dup
NR_174380.1:n.1325_1326dup
NR_174381.1:n.1164_1165dup
NR_174382.1:n.1561_1562dup