Canonical Allele Identifier: CA1926733075

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222426_89222428delinsCTT , CM000672.2:g.89222426_89222428delinsCTT	GRCh38
NC_000010.10:g.90982183_90982185delinsCTT , CM000672.1:g.90982183_90982185delinsCTT	GRCh37
NC_000010.9:g.90972163_90972165delinsCTT	NCBI36
NG_008194.1:g.34476_34478delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000336233.10:c.894+83_894+85delinsAAG MANE Select	ENSP00000337354.5:n.894+83_894+85delinsAAG
ENST00000336233.9:c.894+83_894+85delinsAAG	ENSP00000337354.5:n.894+83_894+85delinsAAG
ENST00000371837.5:c.726+83_726+85delinsAAG	ENSP00000360903.1:n.726+83_726+85delinsAAG
ENST00000456827.5:c.546+83_546+85delinsAAG	ENSP00000413019.2:n.546+83_546+85delinsAAG
NM_000235.3:c.894+83_894+85delinsAAG	NP_000226.2:n.894+83_894+85delinsAAG
NM_001127605.2:c.894+83_894+85delinsAAG	NP_001121077.1:n.894+83_894+85delinsAAG
NM_001288979.1:c.546+83_546+85delinsAAG	NP_001275908.1:n.546+83_546+85delinsAAG
XM_024448023.1:c.894+83_894+85delinsAAG	XP_024303791.1:n.894+83_894+85delinsAAG
NM_000235.4:c.894+83_894+85delinsAAG MANE Select	NP_000226.2:n.894+83_894+85delinsAAG
NM_001127605.3:c.894+83_894+85delinsAAG	NP_001121077.1:n.894+83_894+85delinsAAG
NM_001288979.2:c.546+83_546+85delinsAAG	NP_001275908.1:n.546+83_546+85delinsAAG