Canonical Allele Identifier: CA19276906
Community Standard Title: NM_000147.5(FUCA1):c.768+228dup
Gene: FUCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23859584dup , CM000663.2:g.23859584dup GRCh38
NC_000001.10:g.24186074dup , CM000663.1:g.24186074dup GRCh37
NC_000001.9:g.24058661dup NCBI36
NG_013346.1:g.13800dup

Transcript Alleles

HGVS Amino-acid Change
NM_000147.5:c.768+228dup MANE Select NP_000138.2:n.768+228dup
ENST00000374479.4:c.768+228dup MANE Select ENSP00000363603.3:n.768+228dup
NM_000147.4:c.768+228dup NP_000138.2:n.768+228dup
NR_174379.1:n.946+228dup
NR_174380.1:n.995+228dup
NR_174381.1:n.834+228dup
NR_174382.1:n.1231+228dup
ENST00000374479.3:c.768+228dup ENSP00000363603.3:n.768+228dup
XM_005245821.1:c.393+228dup XP_005245878.1:n.393+228dup
XM_005245821.3:c.393+228dup XP_005245878.1:n.393+228dup
XM_011541167.1:c.135+228dup XP_011539469.1:n.135+228dup
XM_011541167.3:c.135+228dup XP_011539469.1:n.135+228dup
XM_017000905.2:c.465+228dup XP_016856394.1:n.465+228dup