Canonical Allele Identifier: CA2615095547

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493204-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493208_74493209del , CM000673.2:g.74493208_74493209del	GRCh38
NC_000011.9:g.74204253_74204254del , CM000673.1:g.74204253_74204254del	GRCh37
NC_000011.8:g.73881901_73881902del	NCBI36
NG_051333.1:g.5508_5509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+32_466+33del MANE Select	ENSP00000309463.4:n.466+32_466+33del
ENST00000310109.4:c.466+32_466+33del	ENSP00000309463.4:n.466+32_466+33del
ENST00000527115.1:c.110_111del
ENST00000528085.1:c.181+261_181+262del
NM_001144869.1:c.466+32_466+33del	NP_001138341.1:n.466+32_466+33del
XM_011545021.1:c.498_499del	XP_011543323.1:p.Arg166SerfsTer?
NM_001144869.2:c.466+32_466+33del	NP_001138341.1:n.466+32_466+33del
NM_001329941.1:c.498_499del	NP_001316870.1:p.Arg166SerfsTer?
NM_001329942.1:c.237+261_237+262del	NP_001316871.1:n.237+261_237+262del
NM_001144869.3:c.466+32_466+33del MANE Select	NP_001138341.1:n.466+32_466+33del
NM_001329941.2:c.498_499del	NP_001316870.1:p.Arg166SerfsTer?
NM_001329942.2:c.237+261_237+262del	NP_001316871.1:n.237+261_237+262del