Canonical Allele Identifier: CA2740090625

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848686del , CM000663.2:g.23848686del	GRCh38
NC_000001.10:g.24175176del , CM000663.1:g.24175176del	GRCh37
NC_000001.9:g.24047763del	NCBI36
NG_013346.1:g.24684del

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1123del MANE Select	NP_000138.2:p.Trp375GlyfsTer?
ENST00000374479.4:c.1123del MANE Select	ENSP00000363603.3:p.Trp375GlyfsTer?
NM_000147.4:c.1123del	NP_000138.2:p.Trp375GlyfsTer?
NR_174379.1:n.1301del
NR_174380.1:n.1350del
NR_174381.1:n.1189del
NR_174382.1:n.1586del
ENST00000374479.3:c.1123del	ENSP00000363603.3:p.Trp375GlyfsTer?
XM_005245821.1:c.748del	XP_005245878.1:p.Trp250GlyfsTer?
XM_005245821.3:c.748del	XP_005245878.1:p.Trp250GlyfsTer?
XM_011541167.1:c.490del	XP_011539469.1:p.Trp164GlyfsTer?
XM_011541167.3:c.490del	XP_011539469.1:p.Trp164GlyfsTer?
XM_017000905.2:c.820del	XP_016856394.1:p.Trp274GlyfsTer?