Canonical Allele Identifier: CA658795328

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 800537
• ClinVar RCV Id: RCV000984520
• dbSNP Id: rs1570692560

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868129_23868138del , CM000663.2:g.23868129_23868138del	GRCh38
NC_000001.10:g.24194619_24194628del , CM000663.1:g.24194619_24194628del	GRCh37
NC_000001.9:g.24067206_24067215del	NCBI36
NG_013346.1:g.5234_5243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.151_160del MANE Select	ENSP00000363603.3:p.Ala51ThrfsTer?
ENST00000374479.3:c.151_160del	ENSP00000363603.3:p.Ala51ThrfsTer?
NM_000147.4:c.151_160del	NP_000138.2:p.Ala51ThrfsTer?
XM_005245821.1:c.-399_-390del	XP_005245878.1:n.-399_-390del
XM_005245821.3:c.-399_-390del	XP_005245878.1:n.-399_-390del
NM_000147.5:c.151_160del MANE Select	NP_000138.2:p.Ala51ThrfsTer?
NR_174379.1:n.155_164del
NR_174380.1:n.155_164del
NR_174381.1:n.155_164del
NR_174382.1:n.155_164del