Canonical Allele Identifier: CA19281878

Gene: FUCA1

Linked Data

• dbSNP Id: rs1036747305
• MyVariant Identifiers: chr1:g.24192255del (hg19) ; chr1:g.23865765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865765del , CM000663.2:g.23865765del	GRCh38
NC_000001.10:g.24192255del , CM000663.1:g.24192255del	GRCh37
NC_000001.9:g.24064842del	NCBI36
NG_013346.1:g.7605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-140del MANE Select	ENSP00000363603.3:n.390-140del
ENST00000374479.3:c.390-140del	ENSP00000363603.3:n.390-140del
NM_000147.4:c.390-140del	NP_000138.2:n.390-140del
XM_005245821.1:c.15-140del	XP_005245878.1:n.15-140del
XM_011541167.1:c.-244-140del	XP_011539469.1:n.-244-140del
XM_005245821.3:c.15-140del	XP_005245878.1:n.15-140del
XM_011541167.3:c.-244-140del	XP_011539469.1:n.-244-140del
XM_017000905.2:c.87-140del	XP_016856394.1:n.87-140del
NM_000147.5:c.390-140del MANE Select	NP_000138.2:n.390-140del
NR_174379.1:n.568-140del
NR_174380.1:n.617-140del
NR_174381.1:n.456-140del
NR_174382.1:n.853-140del