Canonical Allele Identifier: CA2610082340

Gene: LIPA

Linked Data

• gnomAD v4: 10-89247745-T-TAACCCCCAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247745_89247746insAACCCCCAGCCA , CM000672.2:g.89247745_89247746insAACCCCCAGCCA	GRCh38
NC_000010.10:g.91007502_91007503insAACCCCCAGCCA , CM000672.1:g.91007502_91007503insAACCCCCAGCCA	GRCh37
NC_000010.9:g.90997482_90997483insAACCCCCAGCCA	NCBI36
NG_008194.1:g.9158_9159insTGGCTGGGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-97_-1-96insTGGCTGGGGGTT MANE Select	ENSP00000337354.5:n.-1-97_-1-96insTGGCTGGGGGTT
ENST00000282673.5:c.-1-97_-1-96insTGGCTGGGGGTT	ENSP00000282673.4:n.-1-97_-1-96insTGGCTGGGGGTT
ENST00000336233.9:c.-1-97_-1-96insTGGCTGGGGGTT	ENSP00000337354.5:n.-1-97_-1-96insTGGCTGGGGGTT
ENST00000371837.5:c.62-19348_62-19347insTGGCTGGGGGTT	ENSP00000360903.1:n.62-19348_62-19347insTGGCTGGGGGTT
ENST00000428800.5:c.-98_-97insTGGCTGGGGGTT	ENSP00000388415.1:n.-98_-97insTGGCTGGGGGTT
ENST00000456827.5:c.-120+3991_-120+3992insTGGCTGGGGGTT	ENSP00000413019.2:n.-120+3991_-120+3992insTGGCTGGGGGTT
NM_000235.3:c.-1-97_-1-96insTGGCTGGGGGTT	NP_000226.2:n.-1-97_-1-96insTGGCTGGGGGTT
NM_001127605.2:c.-1-97_-1-96insTGGCTGGGGGTT	NP_001121077.1:n.-1-97_-1-96insTGGCTGGGGGTT
NM_001288979.1:c.-120+3991_-120+3992insTGGCTGGGGGTT	NP_001275908.1:n.-120+3991_-120+3992insTGGCTGGGGGTT
XM_024448023.1:c.-1-97_-1-96insTGGCTGGGGGTT	XP_024303791.1:n.-1-97_-1-96insTGGCTGGGGGTT
NM_000235.4:c.-1-97_-1-96insTGGCTGGGGGTT MANE Select	NP_000226.2:n.-1-97_-1-96insTGGCTGGGGGTT
NM_001127605.3:c.-1-97_-1-96insTGGCTGGGGGTT	NP_001121077.1:n.-1-97_-1-96insTGGCTGGGGGTT
NM_001288979.2:c.-120+3991_-120+3992insTGGCTGGGGGTT	NP_001275908.1:n.-120+3991_-120+3992insTGGCTGGGGGTT