Canonical Allele Identifier: CA416626809

Gene: FUCA1

Linked Data

• COSMIC: COSM391183
• MyVariant Identifiers: chr1:g.24175216del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848727del , CM000663.2:g.23848727del	GRCh38
NC_000001.10:g.24175217del , CM000663.1:g.24175217del	GRCh37
NC_000001.9:g.24047804del	NCBI36
NG_013346.1:g.24644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1083del MANE Select	ENSP00000363603.3:p.Trp361CysfsTer2
ENST00000374479.3:c.1083del	ENSP00000363603.3:p.Trp361CysfsTer2
NM_000147.4:c.1083del	NP_000138.2:p.Trp361CysfsTer2
XM_005245821.1:c.708del	XP_005245878.1:p.Trp236CysfsTer2
XM_011541167.1:c.450del	XP_011539469.1:p.Trp150CysfsTer2
XM_005245821.3:c.708del	XP_005245878.1:p.Trp236CysfsTer2
XM_011541167.3:c.450del	XP_011539469.1:p.Trp150CysfsTer2
XM_017000905.2:c.780del	XP_016856394.1:p.Trp260CysfsTer2
NM_000147.5:c.1083del MANE Select	NP_000138.2:p.Trp361CysfsTer2
NR_174379.1:n.1261del
NR_174380.1:n.1310del
NR_174381.1:n.1149del
NR_174382.1:n.1546del