Canonical Allele Identifier: CA1158981456

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639191823

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848682del , CM000663.2:g.23848682del	GRCh38
NC_000001.10:g.24175172del , CM000663.1:g.24175172del	GRCh37
NC_000001.9:g.24047759del	NCBI36
NG_013346.1:g.24690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1129del MANE Select	ENSP00000363603.3:p.Val377CysfsTer?
ENST00000374479.3:c.1129del	ENSP00000363603.3:p.Val377CysfsTer?
NM_000147.4:c.1129del	NP_000138.2:p.Val377CysfsTer?
XM_005245821.1:c.754del	XP_005245878.1:p.Val252CysfsTer?
XM_011541167.1:c.496del	XP_011539469.1:p.Val166CysfsTer?
XM_005245821.3:c.754del	XP_005245878.1:p.Val252CysfsTer?
XM_011541167.3:c.496del	XP_011539469.1:p.Val166CysfsTer?
XM_017000905.2:c.826del	XP_016856394.1:p.Val276CysfsTer?
NM_000147.5:c.1129del MANE Select	NP_000138.2:p.Val377CysfsTer?
NR_174379.1:n.1307del
NR_174380.1:n.1356del
NR_174381.1:n.1195del
NR_174382.1:n.1592del