Canonical Allele Identifier: CA521903400

Gene: FUCA1

Linked Data

• dbSNP Id: rs1459525077
• gnomAD v2: 1-24175094-TG-T
• gnomAD v4: 1-23848604-TG-T
• MyVariant Identifiers: chr1:g.24175095del (hg19) ; chr1:g.23848605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848608del , CM000663.2:g.23848608del	GRCh38
NC_000001.10:g.24175098del , CM000663.1:g.24175098del	GRCh37
NC_000001.9:g.24047685del	NCBI36
NG_013346.1:g.24765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1160+44del MANE Select	ENSP00000363603.3:n.1160+44del
ENST00000374479.3:c.1160+44del	ENSP00000363603.3:n.1160+44del
NM_000147.4:c.1160+44del	NP_000138.2:n.1160+44del
XM_005245821.1:c.785+44del	XP_005245878.1:n.785+44del
XM_011541167.1:c.527+44del	XP_011539469.1:n.527+44del
XM_005245821.3:c.785+44del	XP_005245878.1:n.785+44del
XM_011541167.3:c.527+44del	XP_011539469.1:n.527+44del
XM_017000905.2:c.857+44del	XP_016856394.1:n.857+44del
NM_000147.5:c.1160+44del MANE Select	NP_000138.2:n.1160+44del
NR_174379.1:n.1338+44del
NR_174380.1:n.1387+44del
NR_174381.1:n.1226+44del
NR_174382.1:n.1623+44del