Canonical Allele Identifier: CA5748162

Gene: MGMT

Linked Data

• dbSNP Id: rs751985289
• ExAC: 10:131565216 G / GGGAGC
• gnomAD v2: 10-131565216-G-GGGAGC
• gnomAD v3: 10-129766952-G-GGGAGC
• gnomAD v4: 10-129766952-G-GGGAGC
• MyVariant Identifiers: chr10:g.131565216_131565217insGGAGC (hg19) ; chr10:g.129766952_129766953insGGAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129766955_129766959dup , CM000672.2:g.129766955_129766959dup	GRCh38
NC_000010.10:g.131565219_131565223dup , CM000672.1:g.131565219_131565223dup	GRCh37
NC_000010.9:g.131455209_131455213dup	NCBI36
NG_052673.1:g.304772_304776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306010.8:c.675_679dup	ENSP00000302111.7:p.Gly227GlufsTer19
ENST00000651593.1:c.582_586dup MANE Select	ENSP00000498729.1:p.Gly196GlufsTer19
ENST00000306010.7:c.675_679dup	ENSP00000302111.7:p.Gly227GlufsTer19
NM_002412.3:c.675_679dup	NP_002403.2:p.Gly227GlufsTer19
NM_002412.4:c.675_679dup	NP_002403.2:p.Gly227GlufsTer19
XM_005252682.2:c.582_586dup	XP_005252739.1:p.Gly196GlufsTer19
XM_006717863.2:c.405_409dup	XP_006717926.1:p.Gly137GlufsTer19
XM_011539817.1:c.591_595dup	XP_011538119.1:p.Gly199GlufsTer19
NM_002412.5:c.582_586dup MANE Select	NP_002403.3:p.Gly196GlufsTer19
XM_017016275.1:c.405_409dup	XP_016871764.1:p.Gly137GlufsTer19