Canonical Allele Identifier: CA1926729572

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214147_89214152delinsTTTTTG , CM000672.2:g.89214147_89214152delinsTTTTTG	GRCh38
NC_000010.10:g.90973904_90973909delinsTTTTTG , CM000672.1:g.90973904_90973909delinsTTTTTG	GRCh37
NC_000010.9:g.90963884_90963889delinsTTTTTG	NCBI36
NG_008194.1:g.42752_42757delinsCAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*676_*681delinsCAAAAA MANE Select	ENSP00000337354.5:n.*676_*681delinsCAAAAA
ENST00000336233.9:c.*676_*681delinsCAAAAA	ENSP00000337354.5:n.*676_*681delinsCAAAAA
ENST00000371837.5:c.*676_*681delinsCAAAAA	ENSP00000360903.1:n.*676_*681delinsCAAAAA
ENST00000456827.5:c.*676_*681delinsCAAAAA	ENSP00000413019.2:n.*676_*681delinsCAAAAA
NM_000235.3:c.*676_*681delinsCAAAAA	NP_000226.2:n.*676_*681delinsCAAAAA
NM_001127605.2:c.*676_*681delinsCAAAAA	NP_001121077.1:n.*676_*681delinsCAAAAA
NM_001288979.1:c.*676_*681delinsCAAAAA	NP_001275908.1:n.*676_*681delinsCAAAAA
XM_024448023.1:c.*676_*681delinsCAAAAA	XP_024303791.1:n.*676_*681delinsCAAAAA
NM_000235.4:c.*676_*681delinsCAAAAA MANE Select	NP_000226.2:n.*676_*681delinsCAAAAA
NM_001127605.3:c.*676_*681delinsCAAAAA	NP_001121077.1:n.*676_*681delinsCAAAAA
NM_001288979.2:c.*676_*681delinsCAAAAA	NP_001275908.1:n.*676_*681delinsCAAAAA