Canonical Allele Identifier: CA1158981575
Gene: FUCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848764_23848766delinsGAA , CM000663.2:g.23848764_23848766delinsGAA GRCh38
NC_000001.10:g.24175254_24175256delinsGAA , CM000663.1:g.24175254_24175256delinsGAA GRCh37
NC_000001.9:g.24047841_24047843delinsGAA NCBI36
NG_013346.1:g.24604_24606delinsTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1043_1045delinsTTC MANE Select ENSP00000363603.3:p.Val348=
ENST00000374479.3:c.1043_1045delinsTTC ENSP00000363603.3:p.Val348=
NM_000147.4:c.1043_1045delinsTTC NP_000138.2:p.Val348=
XM_005245821.1:c.668_670delinsTTC XP_005245878.1:p.Val223=
XM_011541167.1:c.410_412delinsTTC XP_011539469.1:p.Val137=
XM_005245821.3:c.668_670delinsTTC XP_005245878.1:p.Val223=
XM_011541167.3:c.410_412delinsTTC XP_011539469.1:p.Val137=
XM_017000905.2:c.740_742delinsTTC XP_016856394.1:p.Val247=
NM_000147.5:c.1043_1045delinsTTC MANE Select NP_000138.2:p.Val348=
NR_174379.1:n.1221_1223delinsTTC
NR_174380.1:n.1270_1272delinsTTC
NR_174381.1:n.1109_1111delinsTTC
NR_174382.1:n.1506_1508delinsTTC