Canonical Allele Identifier: CA1158991253
Gene: FUCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868027_23868030delinsGGCC , CM000663.2:g.23868027_23868030delinsGGCC GRCh38
NC_000001.10:g.24194517_24194520delinsGGCC , CM000663.1:g.24194517_24194520delinsGGCC GRCh37
NC_000001.9:g.24067104_24067107delinsGGCC NCBI36
NG_013346.1:g.5340_5343delinsGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.257_260delinsGGCC MANE Select ENSP00000363603.3:p.Arg86=
ENST00000374479.3:c.257_260delinsGGCC ENSP00000363603.3:p.Arg86=
NM_000147.4:c.257_260delinsGGCC NP_000138.2:p.Arg86=
XM_005245821.1:c.-293_-290delinsGGCC XP_005245878.1:n.-293_-290delinsGGCC
XM_005245821.3:c.-293_-290delinsGGCC XP_005245878.1:n.-293_-290delinsGGCC
NM_000147.5:c.257_260delinsGGCC MANE Select NP_000138.2:p.Arg86=
NR_174379.1:n.261_264delinsGGCC
NR_174380.1:n.261_264delinsGGCC
NR_174381.1:n.261_264delinsGGCC
NR_174382.1:n.261_264delinsGGCC