Canonical Allele Identifier: CA2574923179

Gene: LIPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493251del , CM000673.2:g.74493251del	GRCh38
NC_000011.9:g.74204296del , CM000673.1:g.74204296del	GRCh37
NC_000011.8:g.73881944del	NCBI36
NG_051333.1:g.5463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.453del MANE Select	ENSP00000309463.4:p.Ile152SerfsTer?
ENST00000310109.4:c.453del	ENSP00000309463.4:p.Ile152SerfsTer?
ENST00000527115.1:c.65del
ENST00000528085.1:c.181+216del
NM_001144869.1:c.453del	NP_001138341.1:p.Ile152SerfsTer?
XM_011545021.1:c.453del	XP_011543323.1:p.Ile152SerfsTer14
NM_001144869.2:c.453del	NP_001138341.1:p.Ile152SerfsTer?
NM_001329941.1:c.453del	NP_001316870.1:p.Ile152SerfsTer14
NM_001329942.1:c.237+216del	NP_001316871.1:n.237+216del
NM_001144869.3:c.453del MANE Select	NP_001138341.1:p.Ile152SerfsTer?
NM_001329941.2:c.453del	NP_001316870.1:p.Ile152SerfsTer14
NM_001329942.2:c.237+216del	NP_001316871.1:n.237+216del