Canonical Allele Identifier: CA1926748191
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247827_89247835delinsTTTTATTTA , CM000672.2:g.89247827_89247835delinsTTTTATTTA GRCh38
NC_000010.10:g.91007584_91007592delinsTTTTATTTA , CM000672.1:g.91007584_91007592delinsTTTTATTTA GRCh37
NC_000010.9:g.90997564_90997572delinsTTTTATTTA NCBI36
NG_008194.1:g.9069_9077delinsTAAATAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.-1-186_-1-178delinsTAAATAAAA MANE Select ENSP00000337354.5:n.-1-186_-1-178delinsTAAATAAAA
ENST00000282673.5:c.-1-186_-1-178delinsTAAATAAAA ENSP00000282673.4:n.-1-186_-1-178delinsTAAATAAAA
ENST00000336233.9:c.-1-186_-1-178delinsTAAATAAAA ENSP00000337354.5:n.-1-186_-1-178delinsTAAATAAAA
ENST00000371837.5:c.62-19437_62-19429delinsTAAATAAAA ENSP00000360903.1:n.62-19437_62-19429delinsTAAATAAAA
ENST00000456827.5:c.-120+3902_-120+3910delinsTAAATAAAA ENSP00000413019.2:n.-120+3902_-120+3910delinsTAAATAAAA
NM_000235.3:c.-1-186_-1-178delinsTAAATAAAA NP_000226.2:n.-1-186_-1-178delinsTAAATAAAA
NM_001127605.2:c.-1-186_-1-178delinsTAAATAAAA NP_001121077.1:n.-1-186_-1-178delinsTAAATAAAA
NM_001288979.1:c.-120+3902_-120+3910delinsTAAATAAAA NP_001275908.1:n.-120+3902_-120+3910delinsTAAATAAAA
XM_024448023.1:c.-1-186_-1-178delinsTAAATAAAA XP_024303791.1:n.-1-186_-1-178delinsTAAATAAAA
NM_000235.4:c.-1-186_-1-178delinsTAAATAAAA MANE Select NP_000226.2:n.-1-186_-1-178delinsTAAATAAAA
NM_001127605.3:c.-1-186_-1-178delinsTAAATAAAA NP_001121077.1:n.-1-186_-1-178delinsTAAATAAAA
NM_001288979.2:c.-120+3902_-120+3910delinsTAAATAAAA NP_001275908.1:n.-120+3902_-120+3910delinsTAAATAAAA