Canonical Allele Identifier: CA2615095537

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493199-CCTCGGCTCTCAGGTACCGCCCTGCTCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493201_74493228del , CM000673.2:g.74493201_74493228del	GRCh38
NC_000011.9:g.74204246_74204273del , CM000673.1:g.74204246_74204273del	GRCh37
NC_000011.8:g.73881894_73881921del	NCBI36
NG_051333.1:g.5487_5514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+11_466+38del MANE Select	ENSP00000309463.4:n.466+11_466+38del
ENST00000310109.4:c.466+11_466+38del	ENSP00000309463.4:n.466+11_466+38del
ENST00000527115.1:c.89_116del
ENST00000528085.1:c.181+240_181+267del
NM_001144869.1:c.466+11_466+38del	NP_001138341.1:n.466+11_466+38del
XM_011545021.1:c.477_504del	XP_011543323.1:p.Gly160SerfsTer24
NM_001144869.2:c.466+11_466+38del	NP_001138341.1:n.466+11_466+38del
NM_001329941.1:c.477_504del	NP_001316870.1:p.Gly160SerfsTer24
NM_001329942.1:c.237+240_237+267del	NP_001316871.1:n.237+240_237+267del
NM_001144869.3:c.466+11_466+38del MANE Select	NP_001138341.1:n.466+11_466+38del
NM_001329941.2:c.477_504del	NP_001316870.1:p.Gly160SerfsTer24
NM_001329942.2:c.237+240_237+267del	NP_001316871.1:n.237+240_237+267del