Canonical Allele Identifier: CA2615095564

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493217-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493220del , CM000673.2:g.74493220del	GRCh38
NC_000011.9:g.74204265del , CM000673.1:g.74204265del	GRCh37
NC_000011.8:g.73881913del	NCBI36
NG_051333.1:g.5496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+20del MANE Select	ENSP00000309463.4:n.466+20del
ENST00000310109.4:c.466+20del	ENSP00000309463.4:n.466+20del
ENST00000527115.1:c.98del
ENST00000528085.1:c.181+249del
NM_001144869.1:c.466+20del	NP_001138341.1:n.466+20del
XM_011545021.1:c.486del	XP_011543323.1:p.Arg163GlyfsTer3
NM_001144869.2:c.466+20del	NP_001138341.1:n.466+20del
NM_001329941.1:c.486del	NP_001316870.1:p.Arg163GlyfsTer3
NM_001329942.1:c.237+249del	NP_001316871.1:n.237+249del
NM_001144869.3:c.466+20del MANE Select	NP_001138341.1:n.466+20del
NM_001329941.2:c.486del	NP_001316870.1:p.Arg163GlyfsTer3
NM_001329942.2:c.237+249del	NP_001316871.1:n.237+249del