Canonical Allele Identifier: CA669671590

Gene: LIPA

Linked Data

• dbSNP Id: rs1371388398
• gnomAD v3: 10-89214001-C-CATT
• gnomAD v4: 10-89214001-C-CATT
• MyVariant Identifiers: chr10:g.90973758_90973759insATT (hg19) ; chr10:g.89214001_89214002insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214003_89214005dup , CM000672.2:g.89214003_89214005dup	GRCh38
NC_000010.10:g.90973760_90973762dup , CM000672.1:g.90973760_90973762dup	GRCh37
NC_000010.9:g.90963740_90963742dup	NCBI36
NG_008194.1:g.42900_42902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*824_*826dup MANE Select	ENSP00000337354.5:n.*824_*826dup
ENST00000336233.9:c.*824_*826dup	ENSP00000337354.5:n.*824_*826dup
ENST00000371837.5:c.*824_*826dup	ENSP00000360903.1:n.*824_*826dup
ENST00000456827.5:c.*824_*826dup	ENSP00000413019.2:n.*824_*826dup
NM_000235.3:c.*824_*826dup	NP_000226.2:n.*824_*826dup
NM_001127605.2:c.*824_*826dup	NP_001121077.1:n.*824_*826dup
NM_001288979.1:c.*824_*826dup	NP_001275908.1:n.*824_*826dup
XM_024448023.1:c.*824_*826dup	XP_024303791.1:n.*824_*826dup
NM_000235.4:c.*824_*826dup MANE Select	NP_000226.2:n.*824_*826dup
NM_001127605.3:c.*824_*826dup	NP_001121077.1:n.*824_*826dup
NM_001288979.2:c.*824_*826dup	NP_001275908.1:n.*824_*826dup