Canonical Allele Identifier: CA669697978

Gene: LIPA

Linked Data

• dbSNP Id: rs1367217170
• gnomAD v3: 10-89247840-T-TTTTTA
• gnomAD v4: 10-89247840-T-TTTTTA
• MyVariant Identifiers: chr10:g.91007597_91007598insTTTTA (hg19) ; chr10:g.89247840_89247841insTTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247849_89247853dup , CM000672.2:g.89247849_89247853dup	GRCh38
NC_000010.10:g.91007606_91007610dup , CM000672.1:g.91007606_91007610dup	GRCh37
NC_000010.9:g.90997586_90997590dup	NCBI36
NG_008194.1:g.9059_9063dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-196_-1-192dup MANE Select	ENSP00000337354.5:n.-1-196_-1-192dup
ENST00000282673.5:c.-1-196_-1-192dup	ENSP00000282673.4:n.-1-196_-1-192dup
ENST00000336233.9:c.-1-196_-1-192dup	ENSP00000337354.5:n.-1-196_-1-192dup
ENST00000371837.5:c.62-19447_62-19443dup	ENSP00000360903.1:n.62-19447_62-19443dup
ENST00000456827.5:c.-120+3892_-120+3896dup	ENSP00000413019.2:n.-120+3892_-120+3896dup
NM_000235.3:c.-1-196_-1-192dup	NP_000226.2:n.-1-196_-1-192dup
NM_001127605.2:c.-1-196_-1-192dup	NP_001121077.1:n.-1-196_-1-192dup
NM_001288979.1:c.-120+3892_-120+3896dup	NP_001275908.1:n.-120+3892_-120+3896dup
XM_024448023.1:c.-1-196_-1-192dup	XP_024303791.1:n.-1-196_-1-192dup
NM_000235.4:c.-1-196_-1-192dup MANE Select	NP_000226.2:n.-1-196_-1-192dup
NM_001127605.3:c.-1-196_-1-192dup	NP_001121077.1:n.-1-196_-1-192dup
NM_001288979.2:c.-120+3892_-120+3896dup	NP_001275908.1:n.-120+3892_-120+3896dup