Canonical Allele Identifier: CA2524059644

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214212_89214213insATCCCTGTGGAGACTATACCAC , CM000672.2:g.89214212_89214213insATCCCTGTGGAGACTATACCAC	GRCh38
NC_000010.10:g.90973969_90973970insATCCCTGTGGAGACTATACCAC , CM000672.1:g.90973969_90973970insATCCCTGTGGAGACTATACCAC	GRCh37
NC_000010.9:g.90963949_90963950insATCCCTGTGGAGACTATACCAC	NCBI36
NG_008194.1:g.42691_42692insGTGGTATAGTCTCCACAGGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*615_*616insGTGGTATAGTCTCCACAGGGAT MANE Select	ENSP00000337354.5:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
ENST00000336233.9:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	ENSP00000337354.5:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
ENST00000371837.5:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	ENSP00000360903.1:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
ENST00000456827.5:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	ENSP00000413019.2:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
NM_000235.3:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	NP_000226.2:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
NM_001127605.2:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	NP_001121077.1:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
NM_001288979.1:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	NP_001275908.1:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
XM_024448023.1:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	XP_024303791.1:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
NM_000235.4:c.*615_*616insGTGGTATAGTCTCCACAGGGAT MANE Select	NP_000226.2:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
NM_001127605.3:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	NP_001121077.1:n.*615_*616insGTGGTATAGTCTCCACAGGGAT
NM_001288979.2:c.*615_*616insGTGGTATAGTCTCCACAGGGAT	NP_001275908.1:n.*615_*616insGTGGTATAGTCTCCACAGGGAT