Canonical Allele Identifier: CA2615095452

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493143-CCTCACCTCCGTTGGTCCAGCCCCGTCAGACCCCGCCCCCAGGCCTCAAGCTCCGACCTCGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493148_74493210del , CM000673.2:g.74493148_74493210del	GRCh38
NC_000011.9:g.74204193_74204255del , CM000673.1:g.74204193_74204255del	GRCh37
NC_000011.8:g.73881841_73881903del	NCBI36
NG_051333.1:g.5508_5570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+32_466+94del MANE Select	ENSP00000309463.4:n.466+32_466+94del
ENST00000310109.4:c.466+32_466+94del	ENSP00000309463.4:n.466+32_466+94del
ENST00000527115.1:c.110_116+56del
ENST00000528085.1:c.181+261_181+323del
NM_001144869.1:c.466+32_466+94del	NP_001138341.1:n.466+32_466+94del
XM_011545021.1:c.498_504+56del
NM_001144869.2:c.466+32_466+94del	NP_001138341.1:n.466+32_466+94del
NM_001329941.1:c.498_504+56del
NM_001329942.1:c.237+261_237+323del	NP_001316871.1:n.237+261_237+323del
NM_001144869.3:c.466+32_466+94del MANE Select	NP_001138341.1:n.466+32_466+94del
NM_001329941.2:c.498_504+56del
NM_001329942.2:c.237+261_237+323del	NP_001316871.1:n.237+261_237+323del