Canonical Allele Identifier: CA1158991159
Gene: FUCA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867913_23867914delinsTG , CM000663.2:g.23867913_23867914delinsTG GRCh38
NC_000001.10:g.24194403_24194404delinsTG , CM000663.1:g.24194403_24194404delinsTG GRCh37
NC_000001.9:g.24066990_24066991delinsTG NCBI36
NG_013346.1:g.5456_5457delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.373_374delinsCA MANE Select ENSP00000363603.3:p.Gln125=
ENST00000374479.3:c.373_374delinsCA ENSP00000363603.3:p.Gln125=
NM_000147.4:c.373_374delinsCA NP_000138.2:p.Gln125=
XM_005245821.1:c.-177_-176delinsCA XP_005245878.1:n.-177_-176delinsCA
XM_005245821.3:c.-177_-176delinsCA XP_005245878.1:n.-177_-176delinsCA
NM_000147.5:c.373_374delinsCA MANE Select NP_000138.2:p.Gln125=
NR_174379.1:n.377_378delinsCA
NR_174380.1:n.377_378delinsCA
NR_174381.1:n.377_378delinsCA
NR_174382.1:n.377_378delinsCA
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