Canonical Allele Identifier: CA930996238

Gene: LIPA

Linked Data

• gnomAD v3: 10-89247823-TAAA-T
• gnomAD v4: 10-89247823-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247824_89247826del , CM000672.2:g.89247824_89247826del	GRCh38
NC_000010.10:g.91007581_91007583del , CM000672.1:g.91007581_91007583del	GRCh37
NC_000010.9:g.90997561_90997563del	NCBI36
NG_008194.1:g.9078_9080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-177_-1-175del MANE Select	ENSP00000337354.5:n.-1-177_-1-175del
ENST00000282673.5:c.-1-177_-1-175del	ENSP00000282673.4:n.-1-177_-1-175del
ENST00000336233.9:c.-1-177_-1-175del	ENSP00000337354.5:n.-1-177_-1-175del
ENST00000371837.5:c.62-19428_62-19426del	ENSP00000360903.1:n.62-19428_62-19426del
ENST00000428800.5:c.-178_-176del	ENSP00000388415.1:n.-178_-176del
ENST00000456827.5:c.-120+3911_-120+3913del	ENSP00000413019.2:n.-120+3911_-120+3913del
NM_000235.3:c.-1-177_-1-175del	NP_000226.2:n.-1-177_-1-175del
NM_001127605.2:c.-1-177_-1-175del	NP_001121077.1:n.-1-177_-1-175del
NM_001288979.1:c.-120+3911_-120+3913del	NP_001275908.1:n.-120+3911_-120+3913del
XM_024448023.1:c.-1-177_-1-175del	XP_024303791.1:n.-1-177_-1-175del
NM_000235.4:c.-1-177_-1-175del MANE Select	NP_000226.2:n.-1-177_-1-175del
NM_001127605.3:c.-1-177_-1-175del	NP_001121077.1:n.-1-177_-1-175del
NM_001288979.2:c.-120+3911_-120+3913del	NP_001275908.1:n.-120+3911_-120+3913del