Canonical Allele Identifier: CA669697211

Gene: LIPA

Linked Data

• dbSNP Id: rs1368691901
• MyVariant Identifiers: chr10:g.91007188del (hg19) ; chr10:g.89247431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247433del , CM000672.2:g.89247433del	GRCh38
NC_000010.10:g.91007190del , CM000672.1:g.91007190del	GRCh37
NC_000010.9:g.90997170del	NCBI36
NG_008194.1:g.9473del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336233.10:c.111+107del MANE Select	ENSP00000337354.5:n.111+107del
ENST00000282673.5:c.111+107del	ENSP00000282673.4:n.111+107del
ENST00000336233.9:c.111+107del	ENSP00000337354.5:n.111+107del
ENST00000371837.5:c.62-19033del	ENSP00000360903.1:n.62-19033del
ENST00000428800.5:c.111+107del	ENSP00000388415.1:n.111+107del
ENST00000456827.5:c.-120+4306del	ENSP00000413019.2:n.-120+4306del
NM_000235.3:c.111+107del	NP_000226.2:n.111+107del
NM_001127605.2:c.111+107del	NP_001121077.1:n.111+107del
NM_001288979.1:c.-120+4306del	NP_001275908.1:n.-120+4306del
XM_024448023.1:c.111+107del	XP_024303791.1:n.111+107del
NM_000235.4:c.111+107del MANE Select	NP_000226.2:n.111+107del
NM_001127605.3:c.111+107del	NP_001121077.1:n.111+107del
NM_001288979.2:c.-120+4306del	NP_001275908.1:n.-120+4306del