Canonical Allele Identifier: CA2610082108

Gene: LIPA

Linked Data

• gnomAD v4: 10-89247541-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247543dup , CM000672.2:g.89247543dup	GRCh38
NC_000010.10:g.91007300dup , CM000672.1:g.91007300dup	GRCh37
NC_000010.9:g.90997280dup	NCBI36
NG_008194.1:g.9362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.107dup MANE Select	ENSP00000337354.5:p.Asn36LysfsTer4
ENST00000282673.5:c.107dup	ENSP00000282673.4:p.Asn36LysfsTer4
ENST00000336233.9:c.107dup	ENSP00000337354.5:p.Asn36LysfsTer4
ENST00000371837.5:c.62-19144dup	ENSP00000360903.1:n.62-19144dup
ENST00000428800.5:c.107dup	ENSP00000388415.1:p.Asn36LysfsTer4
ENST00000456827.5:c.-120+4195dup	ENSP00000413019.2:n.-120+4195dup
NM_000235.3:c.107dup	NP_000226.2:p.Asn36LysfsTer4
NM_001127605.2:c.107dup	NP_001121077.1:p.Asn36LysfsTer4
NM_001288979.1:c.-120+4195dup	NP_001275908.1:n.-120+4195dup
XM_024448023.1:c.107dup	XP_024303791.1:p.Asn36LysfsTer4
NM_000235.4:c.107dup MANE Select	NP_000226.2:p.Asn36LysfsTer4
NM_001127605.3:c.107dup	NP_001121077.1:p.Asn36LysfsTer4
NM_001288979.2:c.-120+4195dup	NP_001275908.1:n.-120+4195dup