Canonical Allele Identifier: CA1926729464

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89213895_89213896delinsCA , CM000672.2:g.89213895_89213896delinsCA	GRCh38
NC_000010.10:g.90973652_90973653delinsCA , CM000672.1:g.90973652_90973653delinsCA	GRCh37
NC_000010.9:g.90963632_90963633delinsCA	NCBI36
NG_008194.1:g.43008_43009delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*932_*933delinsTG MANE Select	ENSP00000337354.5:n.*932_*933delinsTG
ENST00000336233.9:c.*932_*933delinsTG	ENSP00000337354.5:n.*932_*933delinsTG
ENST00000371837.5:c.*932_*933delinsTG	ENSP00000360903.1:n.*932_*933delinsTG
ENST00000456827.5:c.*932_*933delinsTG	ENSP00000413019.2:n.*932_*933delinsTG
NM_000235.3:c.*932_*933delinsTG	NP_000226.2:n.*932_*933delinsTG
NM_001127605.2:c.*932_*933delinsTG	NP_001121077.1:n.*932_*933delinsTG
NM_001288979.1:c.*932_*933delinsTG	NP_001275908.1:n.*932_*933delinsTG
XM_024448023.1:c.*932_*933delinsTG	XP_024303791.1:n.*932_*933delinsTG
NM_000235.4:c.*932_*933delinsTG MANE Select	NP_000226.2:n.*932_*933delinsTG
NM_001127605.3:c.*932_*933delinsTG	NP_001121077.1:n.*932_*933delinsTG
NM_001288979.2:c.*932_*933delinsTG	NP_001275908.1:n.*932_*933delinsTG