Canonical Allele Identifier: CA1982908650

Gene: LIPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493208_74493209delinsTC , CM000673.2:g.74493208_74493209delinsTC	GRCh38
NC_000011.9:g.74204253_74204254delinsTC , CM000673.1:g.74204253_74204254delinsTC	GRCh37
NC_000011.8:g.73881901_73881902delinsTC	NCBI36
NG_051333.1:g.5505_5506delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+29_466+30delinsGA MANE Select	ENSP00000309463.4:n.466+29_466+30delinsGA
ENST00000310109.4:c.466+29_466+30delinsGA	ENSP00000309463.4:n.466+29_466+30delinsGA
ENST00000527115.1:c.107_108delinsGA
ENST00000528085.1:c.181+258_181+259delinsGA
NM_001144869.1:c.466+29_466+30delinsGA	NP_001138341.1:n.466+29_466+30delinsGA
XM_011545021.1:c.495_496delinsGA	XP_011543323.1:p.Leu165=
NM_001144869.2:c.466+29_466+30delinsGA	NP_001138341.1:n.466+29_466+30delinsGA
NM_001329941.1:c.495_496delinsGA	NP_001316870.1:p.Leu165=
NM_001329942.1:c.237+258_237+259delinsGA	NP_001316871.1:n.237+258_237+259delinsGA
NM_001144869.3:c.466+29_466+30delinsGA MANE Select	NP_001138341.1:n.466+29_466+30delinsGA
NM_001329941.2:c.495_496delinsGA	NP_001316870.1:p.Leu165=
NM_001329942.2:c.237+258_237+259delinsGA	NP_001316871.1:n.237+258_237+259delinsGA