Canonical Allele Identifier: CA1926747963

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247377_89247385delinsCTCAAAAAA , CM000672.2:g.89247377_89247385delinsCTCAAAAAA	GRCh38
NC_000010.10:g.91007134_91007142delinsCTCAAAAAA , CM000672.1:g.91007134_91007142delinsCTCAAAAAA	GRCh37
NC_000010.9:g.90997114_90997122delinsCTCAAAAAA	NCBI36
NG_008194.1:g.9519_9527delinsTTTTTTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.111+153_111+161delinsTTTTTTGAG MANE Select	ENSP00000337354.5:n.111+153_111+161delinsTTTTTTGAG
ENST00000282673.5:c.111+153_111+161delinsTTTTTTGAG	ENSP00000282673.4:n.111+153_111+161delinsTTTTTTGAG
ENST00000336233.9:c.111+153_111+161delinsTTTTTTGAG	ENSP00000337354.5:n.111+153_111+161delinsTTTTTTGAG
ENST00000371837.5:c.62-18987_62-18979delinsTTTTTTGAG	ENSP00000360903.1:n.62-18987_62-18979delinsTTTTTTGAG
ENST00000428800.5:c.111+153_111+161delinsTTTTTTGAG	ENSP00000388415.1:n.111+153_111+161delinsTTTTTTGAG
ENST00000456827.5:c.-120+4352_-120+4360delinsTTTTTTGAG	ENSP00000413019.2:n.-120+4352_-120+4360delinsTTTTTTGAG
NM_000235.3:c.111+153_111+161delinsTTTTTTGAG	NP_000226.2:n.111+153_111+161delinsTTTTTTGAG
NM_001127605.2:c.111+153_111+161delinsTTTTTTGAG	NP_001121077.1:n.111+153_111+161delinsTTTTTTGAG
NM_001288979.1:c.-120+4352_-120+4360delinsTTTTTTGAG	NP_001275908.1:n.-120+4352_-120+4360delinsTTTTTTGAG
XM_024448023.1:c.111+153_111+161delinsTTTTTTGAG	XP_024303791.1:n.111+153_111+161delinsTTTTTTGAG
NM_000235.4:c.111+153_111+161delinsTTTTTTGAG MANE Select	NP_000226.2:n.111+153_111+161delinsTTTTTTGAG
NM_001127605.3:c.111+153_111+161delinsTTTTTTGAG	NP_001121077.1:n.111+153_111+161delinsTTTTTTGAG
NM_001288979.2:c.-120+4352_-120+4360delinsTTTTTTGAG	NP_001275908.1:n.-120+4352_-120+4360delinsTTTTTTGAG