Canonical Allele Identifier: CA2499214625
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065617
ClinVar RCV Id: RCV001376165
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23859648_23865720del , CM000663.2:g.23859648_23865720del GRCh38
NC_000001.10:g.24186138_24192210del , CM000663.1:g.24186138_24192210del GRCh37
NC_000001.9:g.24058725_24064797del NCBI36
NG_013346.1:g.7650_13722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.390-95_768+150del
ENST00000374479.3:c.390-95_768+150del
NM_000147.4:c.390-95_768+150del
XM_005245821.1:c.15-95_393+150del
XM_011541167.1:c.-244-95_135+150del
XM_005245821.3:c.15-95_393+150del
XM_011541167.3:c.-244-95_135+150del
XM_017000905.2:c.87-95_465+150del
NM_000147.5:c.390-95_768+150del
NR_174379.1:n.568-95_946+150del
NR_174380.1:n.617-95_995+150del
NR_174381.1:n.456-95_834+150del
NR_174382.1:n.853-95_1231+150del
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