Canonical Allele Identifier: CA2644083912

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848672-CCATTGCACCCGCCATGGTTTGGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848676_23848700del , CM000663.2:g.23848676_23848700del	GRCh38
NC_000001.10:g.24175166_24175190del , CM000663.1:g.24175166_24175190del	GRCh37
NC_000001.9:g.24047753_24047777del	NCBI36
NG_013346.1:g.24673_24697del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1112_1136del MANE Select	ENSP00000363603.3:p.Ala371GlyfsTer30
ENST00000374479.3:c.1112_1136del	ENSP00000363603.3:p.Ala371GlyfsTer30
NM_000147.4:c.1112_1136del	NP_000138.2:p.Ala371GlyfsTer30
XM_005245821.1:c.737_761del	XP_005245878.1:p.Ala246GlyfsTer30
XM_011541167.1:c.479_503del	XP_011539469.1:p.Ala160GlyfsTer30
XM_005245821.3:c.737_761del	XP_005245878.1:p.Ala246GlyfsTer30
XM_011541167.3:c.479_503del	XP_011539469.1:p.Ala160GlyfsTer30
XM_017000905.2:c.809_833del	XP_016856394.1:p.Ala270GlyfsTer30
NM_000147.5:c.1112_1136del MANE Select	NP_000138.2:p.Ala371GlyfsTer30
NR_174379.1:n.1290_1314del
NR_174380.1:n.1339_1363del
NR_174381.1:n.1178_1202del
NR_174382.1:n.1575_1599del