Canonical Allele Identifier: CA600712364

Gene: LIPT2

Linked Data

• dbSNP Id: rs1261369228
• gnomAD v2: 11-74204329-CG-C
• gnomAD v4: 11-74493284-CG-C
• MyVariant Identifiers: chr11:g.74204330del (hg19) ; chr11:g.74493285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493289del , CM000673.2:g.74493289del	GRCh38
NC_000011.9:g.74204334del , CM000673.1:g.74204334del	GRCh37
NC_000011.8:g.73881982del	NCBI36
NG_051333.1:g.5429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.419del MANE Select	ENSP00000309463.4:p.Pro140ArgfsTer8
ENST00000310109.4:c.419del	ENSP00000309463.4:p.Pro140ArgfsTer8
ENST00000527115.1:c.31del
ENST00000528085.1:c.181+182del
NM_001144869.1:c.419del	NP_001138341.1:p.Pro140ArgfsTer8
XM_011545021.1:c.419del	XP_011543323.1:p.Pro140ArgfsTer8
NM_001144869.2:c.419del	NP_001138341.1:p.Pro140ArgfsTer8
NM_001329941.1:c.419del	NP_001316870.1:p.Pro140ArgfsTer8
NM_001329942.1:c.237+182del	NP_001316871.1:n.237+182del
NM_001144869.3:c.419del MANE Select	NP_001138341.1:p.Pro140ArgfsTer8
NM_001329941.2:c.419del	NP_001316870.1:p.Pro140ArgfsTer8
NM_001329942.2:c.237+182del	NP_001316871.1:n.237+182del