Canonical Allele Identifier: CA2615095437

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493136-TCCCGGCCCTCACCTCCGTTGGTCCAGCCCCGTCAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493141_74493177del , CM000673.2:g.74493141_74493177del	GRCh38
NC_000011.9:g.74204186_74204222del , CM000673.1:g.74204186_74204222del	GRCh37
NC_000011.8:g.73881834_73881870del	NCBI36
NG_051333.1:g.5541_5577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+65_466+101del MANE Select	ENSP00000309463.4:n.466+65_466+101del
ENST00000310109.4:c.466+65_466+101del	ENSP00000309463.4:n.466+65_466+101del
ENST00000527115.1:c.116+27_116+63del
ENST00000528085.1:c.181+294_181+330del
NM_001144869.1:c.466+65_466+101del	NP_001138341.1:n.466+65_466+101del
XM_011545021.1:c.504+27_504+63del	XP_011543323.1:n.504+27_504+63del
NM_001144869.2:c.466+65_466+101del	NP_001138341.1:n.466+65_466+101del
NM_001329941.1:c.504+27_504+63del	NP_001316870.1:n.504+27_504+63del
NM_001329942.1:c.237+294_237+330del	NP_001316871.1:n.237+294_237+330del
NM_001144869.3:c.466+65_466+101del MANE Select	NP_001138341.1:n.466+65_466+101del
NM_001329941.2:c.504+27_504+63del	NP_001316870.1:n.504+27_504+63del
NM_001329942.2:c.237+294_237+330del	NP_001316871.1:n.237+294_237+330del