Canonical Allele Identifier: CA2615095588

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493283-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493284dup , CM000673.2:g.74493284dup	GRCh38
NC_000011.9:g.74204329dup , CM000673.1:g.74204329dup	GRCh37
NC_000011.8:g.73881977dup	NCBI36
NG_051333.1:g.5430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.420dup MANE Select	ENSP00000309463.4:p.Pro141AlafsTer?
ENST00000310109.4:c.420dup	ENSP00000309463.4:p.Pro141AlafsTer?
ENST00000527115.1:c.32dup
ENST00000528085.1:c.181+183dup
NM_001144869.1:c.420dup	NP_001138341.1:p.Pro141AlafsTer?
XM_011545021.1:c.420dup	XP_011543323.1:p.Pro141AlafsTer17
NM_001144869.2:c.420dup	NP_001138341.1:p.Pro141AlafsTer?
NM_001329941.1:c.420dup	NP_001316870.1:p.Pro141AlafsTer17
NM_001329942.1:c.237+183dup	NP_001316871.1:n.237+183dup
NM_001144869.3:c.420dup MANE Select	NP_001138341.1:p.Pro141AlafsTer?
NM_001329941.2:c.420dup	NP_001316870.1:p.Pro141AlafsTer17
NM_001329942.2:c.237+183dup	NP_001316871.1:n.237+183dup