Canonical Allele Identifier: CA1926747969

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247378_89247392delinsTCAAAAAAAAAAAAA , CM000672.2:g.89247378_89247392delinsTCAAAAAAAAAAAAA	GRCh38
NC_000010.10:g.91007135_91007149delinsTCAAAAAAAAAAAAA , CM000672.1:g.91007135_91007149delinsTCAAAAAAAAAAAAA	GRCh37
NC_000010.9:g.90997115_90997129delinsTCAAAAAAAAAAAAA	NCBI36
NG_008194.1:g.9512_9526delinsTTTTTTTTTTTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+146_111+160delinsTTTTTTTTTTTTTGA MANE Select	ENSP00000337354.5:n.111+146_111+160delinsTTTTTTTTTTTTTGA
ENST00000282673.5:c.111+146_111+160delinsTTTTTTTTTTTTTGA	ENSP00000282673.4:n.111+146_111+160delinsTTTTTTTTTTTTTGA
ENST00000336233.9:c.111+146_111+160delinsTTTTTTTTTTTTTGA	ENSP00000337354.5:n.111+146_111+160delinsTTTTTTTTTTTTTGA
ENST00000371837.5:c.62-18994_62-18980delinsTTTTTTTTTTTTTGA	ENSP00000360903.1:n.62-18994_62-18980delinsTTTTTTTTTTTTTGA
ENST00000428800.5:c.111+146_111+160delinsTTTTTTTTTTTTTGA	ENSP00000388415.1:n.111+146_111+160delinsTTTTTTTTTTTTTGA
ENST00000456827.5:c.-120+4345_-120+4359delinsTTTTTTTTTTTTTGA	ENSP00000413019.2:n.-120+4345_-120+4359delinsTTTTTTTTTTTTTGA
NM_000235.3:c.111+146_111+160delinsTTTTTTTTTTTTTGA	NP_000226.2:n.111+146_111+160delinsTTTTTTTTTTTTTGA
NM_001127605.2:c.111+146_111+160delinsTTTTTTTTTTTTTGA	NP_001121077.1:n.111+146_111+160delinsTTTTTTTTTTTTTGA
NM_001288979.1:c.-120+4345_-120+4359delinsTTTTTTTTTTTTTGA	NP_001275908.1:n.-120+4345_-120+4359delinsTTTTTTTTTTTTTGA
XM_024448023.1:c.111+146_111+160delinsTTTTTTTTTTTTTGA	XP_024303791.1:n.111+146_111+160delinsTTTTTTTTTTTTTGA
NM_000235.4:c.111+146_111+160delinsTTTTTTTTTTTTTGA MANE Select	NP_000226.2:n.111+146_111+160delinsTTTTTTTTTTTTTGA
NM_001127605.3:c.111+146_111+160delinsTTTTTTTTTTTTTGA	NP_001121077.1:n.111+146_111+160delinsTTTTTTTTTTTTTGA
NM_001288979.2:c.-120+4345_-120+4359delinsTTTTTTTTTTTTTGA	NP_001275908.1:n.-120+4345_-120+4359delinsTTTTTTTTTTTTTGA