Canonical Allele Identifier: CA211322486

Gene: LIPA

Linked Data

• dbSNP Id: rs1053173998
• gnomAD v2: 10-91003121-A-AGGTTAGC
• gnomAD v3: 10-89243364-A-AGGTTAGC
• gnomAD v4: 10-89243364-A-AGGTTAGC
• MyVariant Identifiers: chr10:g.91003121_91003122insGGTTAGC (hg19) ; chr10:g.89243364_89243365insGGTTAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89243365_89243371dup , CM000672.2:g.89243365_89243371dup	GRCh38
NC_000010.10:g.91003122_91003128dup , CM000672.1:g.91003122_91003128dup	GRCh37
NC_000010.9:g.90993102_90993108dup	NCBI36
NG_008194.1:g.13533_13539dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.229+2305_229+2311dup MANE Select	ENSP00000337354.5:n.229+2305_229+2311dup
ENST00000282673.5:c.229+2305_229+2311dup	ENSP00000282673.4:n.229+2305_229+2311dup
ENST00000336233.9:c.229+2305_229+2311dup	ENSP00000337354.5:n.229+2305_229+2311dup
ENST00000371837.5:c.62-14973_62-14967dup	ENSP00000360903.1:n.62-14973_62-14967dup
ENST00000428800.5:c.229+2305_229+2311dup	ENSP00000388415.1:n.229+2305_229+2311dup
ENST00000456827.5:c.-120+8366_-120+8372dup	ENSP00000413019.2:n.-120+8366_-120+8372dup
NM_000235.3:c.229+2305_229+2311dup	NP_000226.2:n.229+2305_229+2311dup
NM_001127605.2:c.229+2305_229+2311dup	NP_001121077.1:n.229+2305_229+2311dup
NM_001288979.1:c.-120+8366_-120+8372dup	NP_001275908.1:n.-120+8366_-120+8372dup
XM_024448023.1:c.229+2305_229+2311dup	XP_024303791.1:n.229+2305_229+2311dup
NM_000235.4:c.229+2305_229+2311dup MANE Select	NP_000226.2:n.229+2305_229+2311dup
NM_001127605.3:c.229+2305_229+2311dup	NP_001121077.1:n.229+2305_229+2311dup
NM_001288979.2:c.-120+8366_-120+8372dup	NP_001275908.1:n.-120+8366_-120+8372dup