Canonical Allele Identifier: CA2615095581

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493229-GGCGCTCACCGATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493234_74493246del , CM000673.2:g.74493234_74493246del	GRCh38
NC_000011.9:g.74204279_74204291del , CM000673.1:g.74204279_74204291del	GRCh37
NC_000011.8:g.73881927_73881939del	NCBI36
NG_051333.1:g.5472_5484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.462_466+8del
ENST00000310109.4:c.462_466+8del
ENST00000527115.1:c.74_86del
ENST00000528085.1:c.181+225_181+237del
NM_001144869.1:c.462_466+8del
XM_011545021.1:c.462_474del	XP_011543323.1:p.Ile155AlafsTer7
NM_001144869.2:c.462_466+8del
NM_001329941.1:c.462_474del	NP_001316870.1:p.Ile155AlafsTer7
NM_001329942.1:c.237+225_237+237del	NP_001316871.1:n.237+225_237+237del
NM_001144869.3:c.462_466+8del
NM_001329941.2:c.462_474del	NP_001316870.1:p.Ile155AlafsTer7
NM_001329942.2:c.237+225_237+237del	NP_001316871.1:n.237+225_237+237del