Canonical Allele Identifier: CA1139656004

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 979024
• ClinVar RCV Id: RCV001257915
• dbSNP Id: rs1639662557

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868051del , CM000663.2:g.23868051del	GRCh38
NC_000001.10:g.24194541del , CM000663.1:g.24194541del	GRCh37
NC_000001.9:g.24067128del	NCBI36
NG_013346.1:g.5320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.237del MANE Select	ENSP00000363603.3:p.Trp79CysfsTer?
ENST00000374479.3:c.237del	ENSP00000363603.3:p.Trp79CysfsTer?
NM_000147.4:c.237del	NP_000138.2:p.Trp79CysfsTer?
XM_005245821.1:c.-313del	XP_005245878.1:n.-313del
XM_005245821.3:c.-313del	XP_005245878.1:n.-313del
NM_000147.5:c.237del MANE Select	NP_000138.2:p.Trp79CysfsTer?
NR_174379.1:n.241del
NR_174380.1:n.241del
NR_174381.1:n.241del
NR_174382.1:n.241del