Canonical Allele Identifier: CA211322427

Gene: LIPA

Linked Data

• dbSNP Id: rs1028520819
• gnomAD v3: 10-89243107-ACG-A
• gnomAD v4: 10-89243107-ACG-A
• MyVariant Identifiers: chr10:g.91002865_91002866del (hg19) ; chr10:g.89243108_89243109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89243110_89243111del , CM000672.2:g.89243110_89243111del	GRCh38
NC_000010.10:g.91002867_91002868del , CM000672.1:g.91002867_91002868del	GRCh37
NC_000010.9:g.90992847_90992848del	NCBI36
NG_008194.1:g.13795_13796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.229+2567_229+2568del MANE Select	ENSP00000337354.5:n.229+2567_229+2568del
ENST00000282673.5:c.229+2567_229+2568del	ENSP00000282673.4:n.229+2567_229+2568del
ENST00000336233.9:c.229+2567_229+2568del	ENSP00000337354.5:n.229+2567_229+2568del
ENST00000371837.5:c.62-14711_62-14710del	ENSP00000360903.1:n.62-14711_62-14710del
ENST00000428800.5:c.229+2567_229+2568del	ENSP00000388415.1:n.229+2567_229+2568del
ENST00000456827.5:c.-120+8628_-120+8629del	ENSP00000413019.2:n.-120+8628_-120+8629del
NM_000235.3:c.229+2567_229+2568del	NP_000226.2:n.229+2567_229+2568del
NM_001127605.2:c.229+2567_229+2568del	NP_001121077.1:n.229+2567_229+2568del
NM_001288979.1:c.-120+8628_-120+8629del	NP_001275908.1:n.-120+8628_-120+8629del
XM_024448023.1:c.229+2567_229+2568del	XP_024303791.1:n.229+2567_229+2568del
NM_000235.4:c.229+2567_229+2568del MANE Select	NP_000226.2:n.229+2567_229+2568del
NM_001127605.3:c.229+2567_229+2568del	NP_001121077.1:n.229+2567_229+2568del
NM_001288979.2:c.-120+8628_-120+8629del	NP_001275908.1:n.-120+8628_-120+8629del