Canonical Allele Identifier: CA211366234

Gene: LIPA

Linked Data

• dbSNP Id: rs905161979
• gnomAD v2: 10-90982470-GA-G
• gnomAD v3: 10-89222713-GA-G
• gnomAD v4: 10-89222713-GA-G
• MyVariant Identifiers: chr10:g.90982471del (hg19) ; chr10:g.89222714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222720del , CM000672.2:g.89222720del	GRCh38
NC_000010.10:g.90982477del , CM000672.1:g.90982477del	GRCh37
NC_000010.9:g.90972457del	NCBI36
NG_008194.1:g.34190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.823-132del MANE Select	ENSP00000337354.5:n.823-132del
ENST00000336233.9:c.823-132del	ENSP00000337354.5:n.823-132del
ENST00000371837.5:c.655-132del	ENSP00000360903.1:n.655-132del
ENST00000428800.5:c.823-132del	ENSP00000388415.1:n.823-132del
ENST00000456827.5:c.475-132del	ENSP00000413019.2:n.475-132del
NM_000235.3:c.823-132del	NP_000226.2:n.823-132del
NM_001127605.2:c.823-132del	NP_001121077.1:n.823-132del
NM_001288979.1:c.475-132del	NP_001275908.1:n.475-132del
XM_024448023.1:c.823-132del	XP_024303791.1:n.823-132del
NM_000235.4:c.823-132del MANE Select	NP_000226.2:n.823-132del
NM_001127605.3:c.823-132del	NP_001121077.1:n.823-132del
NM_001288979.2:c.475-132del	NP_001275908.1:n.475-132del