Canonical Allele Identifier: CA2610081507

Gene: LIPA

Linked Data

• gnomAD v4: 10-89214137-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214139_89214140del , CM000672.2:g.89214139_89214140del	GRCh38
NC_000010.10:g.90973896_90973897del , CM000672.1:g.90973896_90973897del	GRCh37
NC_000010.9:g.90963876_90963877del	NCBI36
NG_008194.1:g.42765_42766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*689_*690del MANE Select	ENSP00000337354.5:n.*689_*690del
ENST00000336233.9:c.*689_*690del	ENSP00000337354.5:n.*689_*690del
ENST00000371837.5:c.*689_*690del	ENSP00000360903.1:n.*689_*690del
ENST00000456827.5:c.*689_*690del	ENSP00000413019.2:n.*689_*690del
NM_000235.3:c.*689_*690del	NP_000226.2:n.*689_*690del
NM_001127605.2:c.*689_*690del	NP_001121077.1:n.*689_*690del
NM_001288979.1:c.*689_*690del	NP_001275908.1:n.*689_*690del
XM_024448023.1:c.*689_*690del	XP_024303791.1:n.*689_*690del
NM_000235.4:c.*689_*690del MANE Select	NP_000226.2:n.*689_*690del
NM_001127605.3:c.*689_*690del	NP_001121077.1:n.*689_*690del
NM_001288979.2:c.*689_*690del	NP_001275908.1:n.*689_*690del