Canonical Allele Identifier: CA930996255

Gene: LIPA

Linked Data

• dbSNP Id: rs1843050030
• gnomAD v3: 10-89247840-T-TTTTA
• gnomAD v4: 10-89247840-T-TTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247843_89247844insATTT , CM000672.2:g.89247843_89247844insATTT	GRCh38
NC_000010.10:g.91007600_91007601insATTT , CM000672.1:g.91007600_91007601insATTT	GRCh37
NC_000010.9:g.90997580_90997581insATTT	NCBI36
NG_008194.1:g.9063_9064insTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-192_-1-191insTAAA MANE Select	ENSP00000337354.5:n.-1-192_-1-191insTAAA
ENST00000282673.5:c.-1-192_-1-191insTAAA	ENSP00000282673.4:n.-1-192_-1-191insTAAA
ENST00000336233.9:c.-1-192_-1-191insTAAA	ENSP00000337354.5:n.-1-192_-1-191insTAAA
ENST00000371837.5:c.62-19443_62-19442insTAAA	ENSP00000360903.1:n.62-19443_62-19442insTAAA
ENST00000456827.5:c.-120+3896_-120+3897insTAAA	ENSP00000413019.2:n.-120+3896_-120+3897insTAAA
NM_000235.3:c.-1-192_-1-191insTAAA	NP_000226.2:n.-1-192_-1-191insTAAA
NM_001127605.2:c.-1-192_-1-191insTAAA	NP_001121077.1:n.-1-192_-1-191insTAAA
NM_001288979.1:c.-120+3896_-120+3897insTAAA	NP_001275908.1:n.-120+3896_-120+3897insTAAA
XM_024448023.1:c.-1-192_-1-191insTAAA	XP_024303791.1:n.-1-192_-1-191insTAAA
NM_000235.4:c.-1-192_-1-191insTAAA MANE Select	NP_000226.2:n.-1-192_-1-191insTAAA
NM_001127605.3:c.-1-192_-1-191insTAAA	NP_001121077.1:n.-1-192_-1-191insTAAA
NM_001288979.2:c.-120+3896_-120+3897insTAAA	NP_001275908.1:n.-120+3896_-120+3897insTAAA