Canonical Allele Identifier: CA1158991162
Gene: FUCA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867922_23867932delinsTCGGCCCACTC , CM000663.2:g.23867922_23867932delinsTCGGCCCACTC GRCh38
NC_000001.10:g.24194412_24194422delinsTCGGCCCACTC , CM000663.1:g.24194412_24194422delinsTCGGCCCACTC GRCh37
NC_000001.9:g.24066999_24067009delinsTCGGCCCACTC NCBI36
NG_013346.1:g.5438_5448delinsGAGTGGGCCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.355_365delinsGAGTGGGCCGA MANE Select ENSP00000363603.3:p.Glu119=
ENST00000374479.3:c.355_365delinsGAGTGGGCCGA ENSP00000363603.3:p.Glu119=
NM_000147.4:c.355_365delinsGAGTGGGCCGA NP_000138.2:p.Glu119=
XM_005245821.1:c.-195_-185delinsGAGTGGGCCGA XP_005245878.1:n.-195_-185delinsGAGTGGGCCGA
XM_005245821.3:c.-195_-185delinsGAGTGGGCCGA XP_005245878.1:n.-195_-185delinsGAGTGGGCCGA
NM_000147.5:c.355_365delinsGAGTGGGCCGA MANE Select NP_000138.2:p.Glu119=
NR_174379.1:n.359_369delinsGAGTGGGCCGA
NR_174380.1:n.359_369delinsGAGTGGGCCGA
NR_174381.1:n.359_369delinsGAGTGGGCCGA
NR_174382.1:n.359_369delinsGAGTGGGCCGA
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