Canonical Allele Identifier: CA658684235

Gene: MGME1 OVOL2

Linked Data

• ClinVar Variation Id: 428588
• ClinVar RCV Id: RCV000578900
• dbSNP Id: rs1555789140
• MyVariant Identifiers: chr20:g.17950861del (hg19) ; chr20:g.17970218del (hg38)
• PubMed: PMID:28711739

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17970218del , CM000682.2:g.17970218del	GRCh38
NC_000020.10:g.17950861del , CM000682.1:g.17950861del	GRCh37
NC_000020.9:g.17898861del	NCBI36
NG_042236.1:g.6328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377710.10:c.359del (MGME1) MANE Select	ENSP00000366939.5:p.Pro120LeufsTer2
ENST00000377704.4:c.359del (MGME1)	ENSP00000366933.4:p.Pro120LeufsTer2
ENST00000377709.1:c.271+88del (MGME1)	ENSP00000366938.1:n.271+88del
ENST00000377710.9:c.359del (MGME1)	ENSP00000366939.5:p.Pro120LeufsTer2
ENST00000463219.1:n.100+88del (MGME1)
ENST00000467391.1:n.162del (MGME1)
ENST00000486776.5:n.492-13180del (OVOL2)
NM_001310338.1:c.359del (MGME1)	NP_001297267.1:p.Pro120LeufsTer2
NM_001310339.1:c.359del (MGME1)	NP_001297268.1:p.Pro120LeufsTer2
NM_052865.2:c.359del (MGME1)	NP_443097.1:p.Pro120LeufsTer2
NM_052865.3:c.359del (MGME1)	NP_443097.1:p.Pro120LeufsTer2
XM_005260867.2:c.359del (MGME1)	XP_005260924.1:p.Pro120LeufsTer2
XM_005260870.2:c.359del (MGME1)	XP_005260927.1:p.Pro120LeufsTer2
XM_006723663.2:c.359del (MGME1)	XP_006723726.1:p.Pro120LeufsTer2
XM_011529394.1:c.359del (MGME1)	XP_011527696.1:p.Pro120LeufsTer2
XM_011529395.1:c.271+88del (MGME1)	XP_011527697.1:n.271+88del
NM_001363738.1:c.271+88del (MGME1)	NP_001350667.1:n.271+88del
XM_005260867.3:c.359del (MGME1)	XP_005260924.1:p.Pro120LeufsTer2
XM_005260870.4:c.359del (MGME1)	XP_005260927.1:p.Pro120LeufsTer2
XM_006723663.4:c.359del (MGME1)	XP_006723726.1:p.Pro120LeufsTer2
XM_017028127.2:c.359del (MGME1)	XP_016883616.1:p.Pro120LeufsTer2
XM_017028128.1:c.359del (MGME1)	XP_016883617.1:p.Pro120LeufsTer2
XM_024452017.1:c.359del (MGME1)	XP_024307785.1:p.Pro120LeufsTer2
NM_052865.4:c.359del (MGME1) MANE Select	NP_443097.1:p.Pro120LeufsTer2
NM_001310338.2:c.359del (MGME1)	NP_001297267.1:p.Pro120LeufsTer2
NM_001310339.2:c.359del (MGME1)	NP_001297268.1:p.Pro120LeufsTer2
NM_001363738.2:c.271+88del (MGME1)	NP_001350667.1:n.271+88del