Canonical Allele Identifier: CA680150522

Gene: LIPT2

Linked Data

• dbSNP Id: rs1415205994
• gnomAD v4: 11-74493240-AT-A
• MyVariant Identifiers: chr11:g.74204286del (hg19) ; chr11:g.74493241del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493241del , CM000673.2:g.74493241del	GRCh38
NC_000011.9:g.74204286del , CM000673.1:g.74204286del	GRCh37
NC_000011.8:g.73881934del	NCBI36
NG_051333.1:g.5473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.463del MANE Select	ENSP00000309463.4:p.Ile155SerfsTer?
ENST00000310109.4:c.463del	ENSP00000309463.4:p.Ile155SerfsTer?
ENST00000527115.1:c.75del
ENST00000528085.1:c.181+226del
NM_001144869.1:c.463del	NP_001138341.1:p.Ile155SerfsTer?
XM_011545021.1:c.463del	XP_011543323.1:p.Ile155SerfsTer11
NM_001144869.2:c.463del	NP_001138341.1:p.Ile155SerfsTer?
NM_001329941.1:c.463del	NP_001316870.1:p.Ile155SerfsTer11
NM_001329942.1:c.237+226del	NP_001316871.1:n.237+226del
NM_001144869.3:c.463del MANE Select	NP_001138341.1:p.Ile155SerfsTer?
NM_001329941.2:c.463del	NP_001316870.1:p.Ile155SerfsTer11
NM_001329942.2:c.237+226del	NP_001316871.1:n.237+226del