Canonical Allele Identifier: CA2574314417

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848651_23848654del , CM000663.2:g.23848651_23848654del	GRCh38
NC_000001.10:g.24175141_24175144del , CM000663.1:g.24175141_24175144del	GRCh37
NC_000001.9:g.24047728_24047731del	NCBI36
NG_013346.1:g.24718_24721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1157_1160del MANE Select	ENSP00000363603.3:p.Val386GlyfsTer22
ENST00000374479.3:c.1157_1160del	ENSP00000363603.3:p.Val386GlyfsTer22
NM_000147.4:c.1157_1160del	NP_000138.2:p.Val386GlyfsTer22
XM_005245821.1:c.782_785del	XP_005245878.1:p.Val261GlyfsTer22
XM_011541167.1:c.524_527del	XP_011539469.1:p.Val175GlyfsTer22
XM_005245821.3:c.782_785del	XP_005245878.1:p.Val261GlyfsTer22
XM_011541167.3:c.524_527del	XP_011539469.1:p.Val175GlyfsTer22
XM_017000905.2:c.854_857del	XP_016856394.1:p.Val285GlyfsTer22
NM_000147.5:c.1157_1160del MANE Select	NP_000138.2:p.Val386GlyfsTer22
NR_174379.1:n.1335_1338del
NR_174380.1:n.1384_1387del
NR_174381.1:n.1223_1226del
NR_174382.1:n.1620_1623del