Canonical Allele Identifier: CA521903415

Gene: FUCA1

Linked Data

• dbSNP Id: rs1390121589
• gnomAD v2: 1-24194668-AGCG-A
• gnomAD v4: 1-23868178-AGCG-A
• MyVariant Identifiers: chr1:g.24194669_24194671del (hg19) ; chr1:g.23868179_23868181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868182_23868184del , CM000663.2:g.23868182_23868184del	GRCh38
NC_000001.10:g.24194672_24194674del , CM000663.1:g.24194672_24194674del	GRCh37
NC_000001.9:g.24067259_24067261del	NCBI36
NG_013346.1:g.5189_5191del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.106_108del MANE Select	ENSP00000363603.3:p.Arg36del
ENST00000374479.3:c.106_108del	ENSP00000363603.3:p.Arg36del
NM_000147.4:c.106_108del	NP_000138.2:p.Arg36del
XM_005245821.1:c.-444_-442del	XP_005245878.1:n.-444_-442del
XM_005245821.3:c.-444_-442del	XP_005245878.1:n.-444_-442del
NM_000147.5:c.106_108del MANE Select	NP_000138.2:p.Arg36del
NR_174379.1:n.110_112del
NR_174380.1:n.110_112del
NR_174381.1:n.110_112del
NR_174382.1:n.110_112del