Canonical Allele Identifier: CA5748191
Gene: MGMT HGNC NCBI

Linked Data

dbSNP Id: rs757604331
ExAC: 10:131565303 AAC / A
gnomAD v2: 10-131565303-AAC-A
gnomAD v4: 10-129767039-AAC-A
MyVariant Identifiers: chr10:g.131565304_131565305del (hg19) chr10:g.129767041_129767042del (hg38) chr10:g.129767040_129767041del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.129767042_129767043del , CM000672.2:g.129767042_129767043del GRCh38
NC_000010.10:g.131565306_131565307del , CM000672.1:g.131565306_131565307del GRCh37
NC_000010.9:g.131455296_131455297del NCBI36
NG_052673.1:g.304859_304860del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306010.8:c.*45_*46del ENSP00000302111.7:n.*45_*46del
ENST00000651593.1:c.*45_*46del MANE Select ENSP00000498729.1:n.*45_*46del
ENST00000306010.7:c.*45_*46del ENSP00000302111.7:n.*45_*46del
NM_002412.3:c.*45_*46del NP_002403.2:n.*45_*46del
NM_002412.4:c.*45_*46del NP_002403.2:n.*45_*46del
XM_005252682.2:c.*45_*46del XP_005252739.1:n.*45_*46del
XM_006717863.2:c.*45_*46del XP_006717926.1:n.*45_*46del
XM_011539817.1:c.*45_*46del XP_011538119.1:n.*45_*46del
NM_002412.5:c.*45_*46del MANE Select NP_002403.3:n.*45_*46del
XM_017016275.1:c.*45_*46del XP_016871764.1:n.*45_*46del
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