Canonical Allele Identifier: CA2644085482
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23868190-GCTGGGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868192_23868197del , CM000663.2:g.23868192_23868197del GRCh38
NC_000001.10:g.24194682_24194687del , CM000663.1:g.24194682_24194687del GRCh37
NC_000001.9:g.24067269_24067274del NCBI36
NG_013346.1:g.5174_5179del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.91_96del MANE Select ENSP00000363603.3:p.Ala31_Gln32del
ENST00000374479.3:c.91_96del ENSP00000363603.3:p.Ala31_Gln32del
NM_000147.4:c.91_96del NP_000138.2:p.Ala31_Gln32del
XM_005245821.1:c.-459_-454del XP_005245878.1:n.-459_-454del
XM_005245821.3:c.-459_-454del XP_005245878.1:n.-459_-454del
NM_000147.5:c.91_96del MANE Select NP_000138.2:p.Ala31_Gln32del
NR_174379.1:n.95_100del
NR_174380.1:n.95_100del
NR_174381.1:n.95_100del
NR_174382.1:n.95_100del
Search 100 bp 5'
Search 100 bp 3'