Canonical Allele Identifier: CA2788926391

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247730_89247731insCCACCAAACACACCC , CM000672.2:g.89247730_89247731insCCACCAAACACACCC	GRCh38
NC_000010.10:g.91007487_91007488insCCACCAAACACACCC , CM000672.1:g.91007487_91007488insCCACCAAACACACCC	GRCh37
NC_000010.9:g.90997467_90997468insCCACCAAACACACCC	NCBI36
NG_008194.1:g.9173_9174insGGGTGTGTTTGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-82_-1-81insGGGTGTGTTTGGTGG MANE Select	ENSP00000337354.5:n.-1-82_-1-81insGGGTGTGTTTGGTGG
ENST00000282673.5:c.-1-82_-1-81insGGGTGTGTTTGGTGG	ENSP00000282673.4:n.-1-82_-1-81insGGGTGTGTTTGGTGG
ENST00000336233.9:c.-1-82_-1-81insGGGTGTGTTTGGTGG	ENSP00000337354.5:n.-1-82_-1-81insGGGTGTGTTTGGTGG
ENST00000371837.5:c.62-19333_62-19332insGGGTGTGTTTGGTGG	ENSP00000360903.1:n.62-19333_62-19332insGGGTGTGTTTGGTGG
ENST00000428800.5:c.-83_-82insGGGTGTGTTTGGTGG	ENSP00000388415.1:n.-83_-82insGGGTGTGTTTGGTGG
ENST00000456827.5:c.-120+4006_-120+4007insGGGTGTGTTTGGTGG	ENSP00000413019.2:n.-120+4006_-120+4007insGGGTGTGTTTGGTGG
NM_000235.3:c.-1-82_-1-81insGGGTGTGTTTGGTGG	NP_000226.2:n.-1-82_-1-81insGGGTGTGTTTGGTGG
NM_001127605.2:c.-1-82_-1-81insGGGTGTGTTTGGTGG	NP_001121077.1:n.-1-82_-1-81insGGGTGTGTTTGGTGG
NM_001288979.1:c.-120+4006_-120+4007insGGGTGTGTTTGGTGG	NP_001275908.1:n.-120+4006_-120+4007insGGGTGTGTTTGGTGG
XM_024448023.1:c.-1-82_-1-81insGGGTGTGTTTGGTGG	XP_024303791.1:n.-1-82_-1-81insGGGTGTGTTTGGTGG
NM_000235.4:c.-1-82_-1-81insGGGTGTGTTTGGTGG MANE Select	NP_000226.2:n.-1-82_-1-81insGGGTGTGTTTGGTGG
NM_001127605.3:c.-1-82_-1-81insGGGTGTGTTTGGTGG	NP_001121077.1:n.-1-82_-1-81insGGGTGTGTTTGGTGG
NM_001288979.2:c.-120+4006_-120+4007insGGGTGTGTTTGGTGG	NP_001275908.1:n.-120+4006_-120+4007insGGGTGTGTTTGGTGG