Canonical Allele Identifier: CA1158991257
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1639661542
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868031_23868033del , CM000663.2:g.23868031_23868033del GRCh38
NC_000001.10:g.24194521_24194523del , CM000663.1:g.24194521_24194523del GRCh37
NC_000001.9:g.24067108_24067110del NCBI36
NG_013346.1:g.5340_5342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.257_259del MANE Select ENSP00000363603.3:p.Arg86del
ENST00000374479.3:c.257_259del ENSP00000363603.3:p.Arg86del
NM_000147.4:c.257_259del NP_000138.2:p.Arg86del
XM_005245821.1:c.-293_-291del XP_005245878.1:n.-293_-291del
XM_005245821.3:c.-293_-291del XP_005245878.1:n.-293_-291del
NM_000147.5:c.257_259del MANE Select NP_000138.2:p.Arg86del
NR_174379.1:n.261_263del
NR_174380.1:n.261_263del
NR_174381.1:n.261_263del
NR_174382.1:n.261_263del
Search 100 bp 5'
Search 100 bp 3'