Canonical Allele Identifier: CA521651690

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 1362473
• ClinVar RCV Id: RCV001932314
• dbSNP Id: rs1158652644
• gnomAD v2: 1-24191975-ACT-A
• gnomAD v3: 1-23865485-ACT-A
• gnomAD v4: 1-23865485-ACT-A
• MyVariant Identifiers: chr1:g.24191976_24191977del (hg19) ; chr1:g.23865486_23865487del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865487_23865488del , CM000663.2:g.23865487_23865488del	GRCh38
NC_000001.10:g.24191977_24191978del , CM000663.1:g.24191977_24191978del	GRCh37
NC_000001.9:g.24064564_24064565del	NCBI36
NG_013346.1:g.7883_7884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.524+4_524+5del MANE Select	ENSP00000363603.3:n.524+4_524+5del
ENST00000374479.3:c.524+4_524+5del	ENSP00000363603.3:n.524+4_524+5del
NM_000147.4:c.524+4_524+5del	NP_000138.2:n.524+4_524+5del
XM_005245821.1:c.149+4_149+5del	XP_005245878.1:n.149+4_149+5del
XM_011541167.1:c.-110+4_-110+5del	XP_011539469.1:n.-110+4_-110+5del
XM_005245821.3:c.149+4_149+5del	XP_005245878.1:n.149+4_149+5del
XM_011541167.3:c.-110+4_-110+5del	XP_011539469.1:n.-110+4_-110+5del
XM_017000905.2:c.221+4_221+5del	XP_016856394.1:n.221+4_221+5del
NM_000147.5:c.524+4_524+5del MANE Select	NP_000138.2:n.524+4_524+5del
NR_174379.1:n.702+4_702+5del
NR_174380.1:n.751+4_751+5del
NR_174381.1:n.590+4_590+5del
NR_174382.1:n.987+4_987+5del