Canonical Allele Identifier: CA1926729564

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214116_89214117delinsCA , CM000672.2:g.89214116_89214117delinsCA	GRCh38
NC_000010.10:g.90973873_90973874delinsCA , CM000672.1:g.90973873_90973874delinsCA	GRCh37
NC_000010.9:g.90963853_90963854delinsCA	NCBI36
NG_008194.1:g.42787_42788delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*711_*712delinsTG MANE Select	ENSP00000337354.5:n.*711_*712delinsTG
ENST00000336233.9:c.*711_*712delinsTG	ENSP00000337354.5:n.*711_*712delinsTG
ENST00000371837.5:c.*711_*712delinsTG	ENSP00000360903.1:n.*711_*712delinsTG
ENST00000456827.5:c.*711_*712delinsTG	ENSP00000413019.2:n.*711_*712delinsTG
NM_000235.3:c.*711_*712delinsTG	NP_000226.2:n.*711_*712delinsTG
NM_001127605.2:c.*711_*712delinsTG	NP_001121077.1:n.*711_*712delinsTG
NM_001288979.1:c.*711_*712delinsTG	NP_001275908.1:n.*711_*712delinsTG
XM_024448023.1:c.*711_*712delinsTG	XP_024303791.1:n.*711_*712delinsTG
NM_000235.4:c.*711_*712delinsTG MANE Select	NP_000226.2:n.*711_*712delinsTG
NM_001127605.3:c.*711_*712delinsTG	NP_001121077.1:n.*711_*712delinsTG
NM_001288979.2:c.*711_*712delinsTG	NP_001275908.1:n.*711_*712delinsTG