Canonical Allele Identifier: CA2610081404
Gene: LIPA HGNC NCBI

Linked Data

gnomAD v4: 10-89213909-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89213913del , CM000672.2:g.89213913del GRCh38
NC_000010.10:g.90973670del , CM000672.1:g.90973670del GRCh37
NC_000010.9:g.90963650del NCBI36
NG_008194.1:g.42994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.*918del MANE Select ENSP00000337354.5:n.*918del
ENST00000336233.9:c.*918del ENSP00000337354.5:n.*918del
ENST00000371837.5:c.*918del ENSP00000360903.1:n.*918del
ENST00000456827.5:c.*918del ENSP00000413019.2:n.*918del
NM_000235.3:c.*918del NP_000226.2:n.*918del
NM_001127605.2:c.*918del NP_001121077.1:n.*918del
NM_001288979.1:c.*918del NP_001275908.1:n.*918del
XM_024448023.1:c.*918del XP_024303791.1:n.*918del
NM_000235.4:c.*918del MANE Select NP_000226.2:n.*918del
NM_001127605.3:c.*918del NP_001121077.1:n.*918del
NM_001288979.2:c.*918del NP_001275908.1:n.*918del
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