Canonical Allele Identifier: CA1926748180

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247802_89247803delinsGA , CM000672.2:g.89247802_89247803delinsGA	GRCh38
NC_000010.10:g.91007559_91007560delinsGA , CM000672.1:g.91007559_91007560delinsGA	GRCh37
NC_000010.9:g.90997539_90997540delinsGA	NCBI36
NG_008194.1:g.9101_9102delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-154_-1-153delinsTC MANE Select	ENSP00000337354.5:n.-1-154_-1-153delinsTC
ENST00000282673.5:c.-1-154_-1-153delinsTC	ENSP00000282673.4:n.-1-154_-1-153delinsTC
ENST00000336233.9:c.-1-154_-1-153delinsTC	ENSP00000337354.5:n.-1-154_-1-153delinsTC
ENST00000371837.5:c.62-19405_62-19404delinsTC	ENSP00000360903.1:n.62-19405_62-19404delinsTC
ENST00000428800.5:c.-155_-154delinsTC	ENSP00000388415.1:n.-155_-154delinsTC
ENST00000456827.5:c.-120+3934_-120+3935delinsTC	ENSP00000413019.2:n.-120+3934_-120+3935delinsTC
NM_000235.3:c.-1-154_-1-153delinsTC	NP_000226.2:n.-1-154_-1-153delinsTC
NM_001127605.2:c.-1-154_-1-153delinsTC	NP_001121077.1:n.-1-154_-1-153delinsTC
NM_001288979.1:c.-120+3934_-120+3935delinsTC	NP_001275908.1:n.-120+3934_-120+3935delinsTC
XM_024448023.1:c.-1-154_-1-153delinsTC	XP_024303791.1:n.-1-154_-1-153delinsTC
NM_000235.4:c.-1-154_-1-153delinsTC MANE Select	NP_000226.2:n.-1-154_-1-153delinsTC
NM_001127605.3:c.-1-154_-1-153delinsTC	NP_001121077.1:n.-1-154_-1-153delinsTC
NM_001288979.2:c.-120+3934_-120+3935delinsTC	NP_001275908.1:n.-120+3934_-120+3935delinsTC