Canonical Allele Identifier: CA2615095447

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493141-GCCCTCACCTCCGTTGGTCCAGCCCCGTCAGACCCCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493145_74493181del , CM000673.2:g.74493145_74493181del	GRCh38
NC_000011.9:g.74204190_74204226del , CM000673.1:g.74204190_74204226del	GRCh37
NC_000011.8:g.73881838_73881874del	NCBI36
NG_051333.1:g.5536_5572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+60_466+96del MANE Select	ENSP00000309463.4:n.466+60_466+96del
ENST00000310109.4:c.466+60_466+96del	ENSP00000309463.4:n.466+60_466+96del
ENST00000527115.1:c.116+22_116+58del
ENST00000528085.1:c.181+289_181+325del
NM_001144869.1:c.466+60_466+96del	NP_001138341.1:n.466+60_466+96del
XM_011545021.1:c.504+22_504+58del	XP_011543323.1:n.504+22_504+58del
NM_001144869.2:c.466+60_466+96del	NP_001138341.1:n.466+60_466+96del
NM_001329941.1:c.504+22_504+58del	NP_001316870.1:n.504+22_504+58del
NM_001329942.1:c.237+289_237+325del	NP_001316871.1:n.237+289_237+325del
NM_001144869.3:c.466+60_466+96del MANE Select	NP_001138341.1:n.466+60_466+96del
NM_001329941.2:c.504+22_504+58del	NP_001316870.1:n.504+22_504+58del
NM_001329942.2:c.237+289_237+325del	NP_001316871.1:n.237+289_237+325del