Canonical Allele Identifier: CA2644085480
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23868021-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868022dup , CM000663.2:g.23868022dup GRCh38
NC_000001.10:g.24194512dup , CM000663.1:g.24194512dup GRCh37
NC_000001.9:g.24067099dup NCBI36
NG_013346.1:g.5348dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.265dup MANE Select ENSP00000363603.3:p.Tyr89LeufsTer?
ENST00000374479.3:c.265dup ENSP00000363603.3:p.Tyr89LeufsTer?
NM_000147.4:c.265dup NP_000138.2:p.Tyr89LeufsTer?
XM_005245821.1:c.-285dup XP_005245878.1:n.-285dup
XM_005245821.3:c.-285dup XP_005245878.1:n.-285dup
NM_000147.5:c.265dup MANE Select NP_000138.2:p.Tyr89LeufsTer?
NR_174379.1:n.269dup
NR_174380.1:n.269dup
NR_174381.1:n.269dup
NR_174382.1:n.269dup
Search 100 bp 5'
Search 100 bp 3'