Canonical Allele Identifier: CA2644085481
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23868177-TAGCGGCGCGGAGGCTGGGCCCGACGCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868178_23868204del , CM000663.2:g.23868178_23868204del GRCh38
NC_000001.10:g.24194668_24194694del , CM000663.1:g.24194668_24194694del GRCh37
NC_000001.9:g.24067255_24067281del NCBI36
NG_013346.1:g.5166_5192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.83_109del MANE Select ENSP00000363603.3:p.Val28_Tyr37delinsAsp
ENST00000374479.3:c.83_109del ENSP00000363603.3:p.Val28_Tyr37delinsAsp
NM_000147.4:c.83_109del NP_000138.2:p.Val28_Tyr37delinsAsp
XM_005245821.1:c.-467_-441del XP_005245878.1:n.-467_-441del
XM_005245821.3:c.-467_-441del XP_005245878.1:n.-467_-441del
NM_000147.5:c.83_109del MANE Select NP_000138.2:p.Val28_Tyr37delinsAsp
NR_174379.1:n.87_113del
NR_174380.1:n.87_113del
NR_174381.1:n.87_113del
NR_174382.1:n.87_113del
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