Canonical Allele Identifier: CA1926748197

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247836_89247845delinsTTTATTTTTA , CM000672.2:g.89247836_89247845delinsTTTATTTTTA	GRCh38
NC_000010.10:g.91007593_91007602delinsTTTATTTTTA , CM000672.1:g.91007593_91007602delinsTTTATTTTTA	GRCh37
NC_000010.9:g.90997573_90997582delinsTTTATTTTTA	NCBI36
NG_008194.1:g.9059_9068delinsTAAAAATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-196_-1-187delinsTAAAAATAAA MANE Select	ENSP00000337354.5:n.-1-196_-1-187delinsTAAAAATAAA
ENST00000282673.5:c.-1-196_-1-187delinsTAAAAATAAA	ENSP00000282673.4:n.-1-196_-1-187delinsTAAAAATAAA
ENST00000336233.9:c.-1-196_-1-187delinsTAAAAATAAA	ENSP00000337354.5:n.-1-196_-1-187delinsTAAAAATAAA
ENST00000371837.5:c.62-19447_62-19438delinsTAAAAATAAA	ENSP00000360903.1:n.62-19447_62-19438delinsTAAAAATAAA
ENST00000456827.5:c.-120+3892_-120+3901delinsTAAAAATAAA	ENSP00000413019.2:n.-120+3892_-120+3901delinsTAAAAATAAA
NM_000235.3:c.-1-196_-1-187delinsTAAAAATAAA	NP_000226.2:n.-1-196_-1-187delinsTAAAAATAAA
NM_001127605.2:c.-1-196_-1-187delinsTAAAAATAAA	NP_001121077.1:n.-1-196_-1-187delinsTAAAAATAAA
NM_001288979.1:c.-120+3892_-120+3901delinsTAAAAATAAA	NP_001275908.1:n.-120+3892_-120+3901delinsTAAAAATAAA
XM_024448023.1:c.-1-196_-1-187delinsTAAAAATAAA	XP_024303791.1:n.-1-196_-1-187delinsTAAAAATAAA
NM_000235.4:c.-1-196_-1-187delinsTAAAAATAAA MANE Select	NP_000226.2:n.-1-196_-1-187delinsTAAAAATAAA
NM_001127605.3:c.-1-196_-1-187delinsTAAAAATAAA	NP_001121077.1:n.-1-196_-1-187delinsTAAAAATAAA
NM_001288979.2:c.-120+3892_-120+3901delinsTAAAAATAAA	NP_001275908.1:n.-120+3892_-120+3901delinsTAAAAATAAA