Canonical Allele Identifier: CA1926748196

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247835_89247846delinsATTTATTTTTAT , CM000672.2:g.89247835_89247846delinsATTTATTTTTAT	GRCh38
NC_000010.10:g.91007592_91007603delinsATTTATTTTTAT , CM000672.1:g.91007592_91007603delinsATTTATTTTTAT	GRCh37
NC_000010.9:g.90997572_90997583delinsATTTATTTTTAT	NCBI36
NG_008194.1:g.9058_9069delinsATAAAAATAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-197_-1-186delinsATAAAAATAAAT MANE Select	ENSP00000337354.5:n.-1-197_-1-186delinsATAAAAATAAAT
ENST00000282673.5:c.-1-197_-1-186delinsATAAAAATAAAT	ENSP00000282673.4:n.-1-197_-1-186delinsATAAAAATAAAT
ENST00000336233.9:c.-1-197_-1-186delinsATAAAAATAAAT	ENSP00000337354.5:n.-1-197_-1-186delinsATAAAAATAAAT
ENST00000371837.5:c.62-19448_62-19437delinsATAAAAATAAAT	ENSP00000360903.1:n.62-19448_62-19437delinsATAAAAATAAAT
ENST00000456827.5:c.-120+3891_-120+3902delinsATAAAAATAAAT	ENSP00000413019.2:n.-120+3891_-120+3902delinsATAAAAATAAAT
NM_000235.3:c.-1-197_-1-186delinsATAAAAATAAAT	NP_000226.2:n.-1-197_-1-186delinsATAAAAATAAAT
NM_001127605.2:c.-1-197_-1-186delinsATAAAAATAAAT	NP_001121077.1:n.-1-197_-1-186delinsATAAAAATAAAT
NM_001288979.1:c.-120+3891_-120+3902delinsATAAAAATAAAT	NP_001275908.1:n.-120+3891_-120+3902delinsATAAAAATAAAT
XM_024448023.1:c.-1-197_-1-186delinsATAAAAATAAAT	XP_024303791.1:n.-1-197_-1-186delinsATAAAAATAAAT
NM_000235.4:c.-1-197_-1-186delinsATAAAAATAAAT MANE Select	NP_000226.2:n.-1-197_-1-186delinsATAAAAATAAAT
NM_001127605.3:c.-1-197_-1-186delinsATAAAAATAAAT	NP_001121077.1:n.-1-197_-1-186delinsATAAAAATAAAT
NM_001288979.2:c.-120+3891_-120+3902delinsATAAAAATAAAT	NP_001275908.1:n.-120+3891_-120+3902delinsATAAAAATAAAT