Canonical Allele Identifier: CA2615095441

Gene: LIPT2

Linked Data

• gnomAD v4: 11-74493139-CGGCCCTCACCTCCGTTGGTCCAGCCCCGTCAGACCCCGCCCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74493144_74493187del , CM000673.2:g.74493144_74493187del	GRCh38
NC_000011.9:g.74204189_74204232del , CM000673.1:g.74204189_74204232del	GRCh37
NC_000011.8:g.73881837_73881880del	NCBI36
NG_051333.1:g.5531_5574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310109.5:c.466+55_466+98del MANE Select	ENSP00000309463.4:n.466+55_466+98del
ENST00000310109.4:c.466+55_466+98del	ENSP00000309463.4:n.466+55_466+98del
ENST00000527115.1:c.116+17_116+60del
ENST00000528085.1:c.181+284_181+327del
NM_001144869.1:c.466+55_466+98del	NP_001138341.1:n.466+55_466+98del
XM_011545021.1:c.504+17_504+60del	XP_011543323.1:n.504+17_504+60del
NM_001144869.2:c.466+55_466+98del	NP_001138341.1:n.466+55_466+98del
NM_001329941.1:c.504+17_504+60del	NP_001316870.1:n.504+17_504+60del
NM_001329942.1:c.237+284_237+327del	NP_001316871.1:n.237+284_237+327del
NM_001144869.3:c.466+55_466+98del MANE Select	NP_001138341.1:n.466+55_466+98del
NM_001329941.2:c.504+17_504+60del	NP_001316870.1:n.504+17_504+60del
NM_001329942.2:c.237+284_237+327del	NP_001316871.1:n.237+284_237+327del