Canonical Allele Identifier: CA1926748202

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247837_89247850delinsTTATTTTTATTTTA , CM000672.2:g.89247837_89247850delinsTTATTTTTATTTTA	GRCh38
NC_000010.10:g.91007594_91007607delinsTTATTTTTATTTTA , CM000672.1:g.91007594_91007607delinsTTATTTTTATTTTA	GRCh37
NC_000010.9:g.90997574_90997587delinsTTATTTTTATTTTA	NCBI36
NG_008194.1:g.9054_9067delinsTAAAATAAAAATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-201_-1-188delinsTAAAATAAAAATAA MANE Select	ENSP00000337354.5:n.-1-201_-1-188delinsTAAAATAAAAATAA
ENST00000282673.5:c.-1-201_-1-188delinsTAAAATAAAAATAA	ENSP00000282673.4:n.-1-201_-1-188delinsTAAAATAAAAATAA
ENST00000336233.9:c.-1-201_-1-188delinsTAAAATAAAAATAA	ENSP00000337354.5:n.-1-201_-1-188delinsTAAAATAAAAATAA
ENST00000371837.5:c.62-19452_62-19439delinsTAAAATAAAAATAA	ENSP00000360903.1:n.62-19452_62-19439delinsTAAAATAAAAATAA
ENST00000456827.5:c.-120+3887_-120+3900delinsTAAAATAAAAATAA	ENSP00000413019.2:n.-120+3887_-120+3900delinsTAAAATAAAAATAA
NM_000235.3:c.-1-201_-1-188delinsTAAAATAAAAATAA	NP_000226.2:n.-1-201_-1-188delinsTAAAATAAAAATAA
NM_001127605.2:c.-1-201_-1-188delinsTAAAATAAAAATAA	NP_001121077.1:n.-1-201_-1-188delinsTAAAATAAAAATAA
NM_001288979.1:c.-120+3887_-120+3900delinsTAAAATAAAAATAA	NP_001275908.1:n.-120+3887_-120+3900delinsTAAAATAAAAATAA
XM_024448023.1:c.-1-201_-1-188delinsTAAAATAAAAATAA	XP_024303791.1:n.-1-201_-1-188delinsTAAAATAAAAATAA
NM_000235.4:c.-1-201_-1-188delinsTAAAATAAAAATAA MANE Select	NP_000226.2:n.-1-201_-1-188delinsTAAAATAAAAATAA
NM_001127605.3:c.-1-201_-1-188delinsTAAAATAAAAATAA	NP_001121077.1:n.-1-201_-1-188delinsTAAAATAAAAATAA
NM_001288979.2:c.-120+3887_-120+3900delinsTAAAATAAAAATAA	NP_001275908.1:n.-120+3887_-120+3900delinsTAAAATAAAAATAA