Canonical Allele Identifier: CA594954334
Gene: LIPA HGNC NCBI

Linked Data

dbSNP Id: rs1420689688
gnomAD v2: 10-90973904-TTTTTG-T
gnomAD v3: 10-89214147-TTTTTG-T
gnomAD v4: 10-89214147-TTTTTG-T
MyVariant Identifiers: chr10:g.90973905_90973909del (hg19) chr10:g.89214148_89214152del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89214152_89214156del , CM000672.2:g.89214152_89214156del GRCh38
NC_000010.10:g.90973909_90973913del , CM000672.1:g.90973909_90973913del GRCh37
NC_000010.9:g.90963889_90963893del NCBI36
NG_008194.1:g.42752_42756del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.*676_*680del MANE Select ENSP00000337354.5:n.*676_*680del
ENST00000336233.9:c.*676_*680del ENSP00000337354.5:n.*676_*680del
ENST00000371837.5:c.*676_*680del ENSP00000360903.1:n.*676_*680del
ENST00000456827.5:c.*676_*680del ENSP00000413019.2:n.*676_*680del
NM_000235.3:c.*676_*680del NP_000226.2:n.*676_*680del
NM_001127605.2:c.*676_*680del NP_001121077.1:n.*676_*680del
NM_001288979.1:c.*676_*680del NP_001275908.1:n.*676_*680del
XM_024448023.1:c.*676_*680del XP_024303791.1:n.*676_*680del
NM_000235.4:c.*676_*680del MANE Select NP_000226.2:n.*676_*680del
NM_001127605.3:c.*676_*680del NP_001121077.1:n.*676_*680del
NM_001288979.2:c.*676_*680del NP_001275908.1:n.*676_*680del
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