Canonical Allele Identifier: CA2788926352

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247388_89247389insTA , CM000672.2:g.89247388_89247389insTA	GRCh38
NC_000010.10:g.91007145_91007146insTA , CM000672.1:g.91007145_91007146insTA	GRCh37
NC_000010.9:g.90997125_90997126insTA	NCBI36
NG_008194.1:g.9516_9517insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+150_111+151insAT MANE Select	ENSP00000337354.5:n.111+150_111+151insAT
ENST00000282673.5:c.111+150_111+151insAT	ENSP00000282673.4:n.111+150_111+151insAT
ENST00000336233.9:c.111+150_111+151insAT	ENSP00000337354.5:n.111+150_111+151insAT
ENST00000371837.5:c.62-18990_62-18989insAT	ENSP00000360903.1:n.62-18990_62-18989insAT
ENST00000428800.5:c.111+150_111+151insAT	ENSP00000388415.1:n.111+150_111+151insAT
ENST00000456827.5:c.-120+4349_-120+4350insAT	ENSP00000413019.2:n.-120+4349_-120+4350insAT
NM_000235.3:c.111+150_111+151insAT	NP_000226.2:n.111+150_111+151insAT
NM_001127605.2:c.111+150_111+151insAT	NP_001121077.1:n.111+150_111+151insAT
NM_001288979.1:c.-120+4349_-120+4350insAT	NP_001275908.1:n.-120+4349_-120+4350insAT
XM_024448023.1:c.111+150_111+151insAT	XP_024303791.1:n.111+150_111+151insAT
NM_000235.4:c.111+150_111+151insAT MANE Select	NP_000226.2:n.111+150_111+151insAT
NM_001127605.3:c.111+150_111+151insAT	NP_001121077.1:n.111+150_111+151insAT
NM_001288979.2:c.-120+4349_-120+4350insAT	NP_001275908.1:n.-120+4349_-120+4350insAT