Canonical Allele Identifier: CA930984437

Gene: LIPA

Linked Data

• dbSNP Id: rs1842583841
• gnomAD v3: 10-89213895-CA-C
• gnomAD v4: 10-89213895-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89213896del , CM000672.2:g.89213896del	GRCh38
NC_000010.10:g.90973653del , CM000672.1:g.90973653del	GRCh37
NC_000010.9:g.90963633del	NCBI36
NG_008194.1:g.43008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*932del MANE Select	ENSP00000337354.5:n.*932del
ENST00000336233.9:c.*932del	ENSP00000337354.5:n.*932del
ENST00000371837.5:c.*932del	ENSP00000360903.1:n.*932del
ENST00000456827.5:c.*932del	ENSP00000413019.2:n.*932del
NM_000235.3:c.*932del	NP_000226.2:n.*932del
NM_001127605.2:c.*932del	NP_001121077.1:n.*932del
NM_001288979.1:c.*932del	NP_001275908.1:n.*932del
XM_024448023.1:c.*932del	XP_024303791.1:n.*932del
NM_000235.4:c.*932del MANE Select	NP_000226.2:n.*932del
NM_001127605.3:c.*932del	NP_001121077.1:n.*932del
NM_001288979.2:c.*932del	NP_001275908.1:n.*932del