Canonical Allele Identifier: CA2644085479
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867956-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867957del , CM000663.2:g.23867957del GRCh38
NC_000001.10:g.24194447del , CM000663.1:g.24194447del GRCh37
NC_000001.9:g.24067034del NCBI36
NG_013346.1:g.5413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.330del MANE Select ENSP00000363603.3:p.Phe110LeufsTer23
ENST00000374479.3:c.330del ENSP00000363603.3:p.Phe110LeufsTer23
NM_000147.4:c.330del NP_000138.2:p.Phe110LeufsTer23
XM_005245821.1:c.-220del XP_005245878.1:n.-220del
XM_005245821.3:c.-220del XP_005245878.1:n.-220del
NM_000147.5:c.330del MANE Select NP_000138.2:p.Phe110LeufsTer23
NR_174379.1:n.334del
NR_174380.1:n.334del
NR_174381.1:n.334del
NR_174382.1:n.334del
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