Canonical Allele Identifier: CA2574617126

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247452_89247454dup , CM000672.2:g.89247452_89247454dup	GRCh38
NC_000010.10:g.91007209_91007211dup , CM000672.1:g.91007209_91007211dup	GRCh37
NC_000010.9:g.90997189_90997191dup	NCBI36
NG_008194.1:g.9450_9452dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000336233.10:c.111+84_111+86dup MANE Select	ENSP00000337354.5:n.111+84_111+86dup
ENST00000282673.5:c.111+84_111+86dup	ENSP00000282673.4:n.111+84_111+86dup
ENST00000336233.9:c.111+84_111+86dup	ENSP00000337354.5:n.111+84_111+86dup
ENST00000371837.5:c.62-19056_62-19054dup	ENSP00000360903.1:n.62-19056_62-19054dup
ENST00000428800.5:c.111+84_111+86dup	ENSP00000388415.1:n.111+84_111+86dup
ENST00000456827.5:c.-120+4283_-120+4285dup	ENSP00000413019.2:n.-120+4283_-120+4285dup
NM_000235.3:c.111+84_111+86dup	NP_000226.2:n.111+84_111+86dup
NM_001127605.2:c.111+84_111+86dup	NP_001121077.1:n.111+84_111+86dup
NM_001288979.1:c.-120+4283_-120+4285dup	NP_001275908.1:n.-120+4283_-120+4285dup
XM_024448023.1:c.111+84_111+86dup	XP_024303791.1:n.111+84_111+86dup
NM_000235.4:c.111+84_111+86dup MANE Select	NP_000226.2:n.111+84_111+86dup
NM_001127605.3:c.111+84_111+86dup	NP_001121077.1:n.111+84_111+86dup
NM_001288979.2:c.-120+4283_-120+4285dup	NP_001275908.1:n.-120+4283_-120+4285dup