Canonical Allele Identifier: CA2839747704

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868250del , CM000663.2:g.23868250del	GRCh38
NC_000001.10:g.24194740del , CM000663.1:g.24194740del	GRCh37
NC_000001.9:g.24067327del	NCBI36
NG_013346.1:g.5122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.39del MANE Select	ENSP00000363603.3:p.Ala14ArgfsTer?
ENST00000374479.3:c.39del	ENSP00000363603.3:p.Ala14ArgfsTer?
NM_000147.4:c.39del	NP_000138.2:p.Ala14ArgfsTer?
XM_005245821.1:c.-511del	XP_005245878.1:n.-511del
XM_005245821.3:c.-511del	XP_005245878.1:n.-511del
NM_000147.5:c.39del MANE Select	NP_000138.2:p.Ala14ArgfsTer?
NR_174379.1:n.43del
NR_174380.1:n.43del
NR_174381.1:n.43del
NR_174382.1:n.43del