Canonical Allele Identifier: CA2519884980
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039134_183039135insATCCCAATGCTCCTTGGAAGCAGGAGGAGTTCGTCATCATCCACAACAATGCTGGCTCTTGGCCTACGGTCGAAGTACAGCGTCAGAGTACCGTCACCTACCTCGAGCAGTACGACAAGAAGCAAGGGC , CM000665.2:g.183039134_183039135insATCCCAATGCTCCTTGGAAGCAGGAGGAGTTCGTCATCATCCACAACAATGCTGGCTCTTGGCCTACGGTCGAAGTACAGCGTCAGAGTACCGTCACCTACCTCGAGCAGTACGACAAGAAGCAAGGGC GRCh38
NC_000003.11:g.182756922_182756923insATCCCAATGCTCCTTGGAAGCAGGAGGAGTTCGTCATCATCCACAACAATGCTGGCTCTTGGCCTACGGTCGAAGTACAGCGTCAGAGTACCGTCACCTACCTCGAGCAGTACGACAAGAAGCAAGGGC , CM000665.1:g.182756922_182756923insATCCCAATGCTCCTTGGAAGCAGGAGGAGTTCGTCATCATCCACAACAATGCTGGCTCTTGGCCTACGGTCGAAGTACAGCGTCAGAGTACCGTCACCTACCTCGAGCAGTACGACAAGAAGCAAGGGC GRCh37
NC_000003.10:g.184239616_184239617insATCCCAATGCTCCTTGGAAGCAGGAGGAGTTCGTCATCATCCACAACAATGCTGGCTCTTGGCCTACGGTCGAAGTACAGCGTCAGAGTACCGTCACCTACCTCGAGCAGTACGACAAGAAGCAAGGGC NCBI36
NG_008100.1:g.65443_65444insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1268_1269insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT MANE Select ENSP00000265594.4:p.Gly423_Asp424insProLeuLeuLeuValValLeuLeuG...
ENST00000265594.8:c.1268_1269insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000265594.4:p.Gly423_Asp424insProLeuLeuLeuValValLeuLeuG...
ENST00000476176.5:c.1127_1128insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000420433.1:p.Gly376_Asp377insProLeuLeuLeuValValLeuLeuG...
ENST00000492597.5:c.941_942insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000419898.1:p.Gly314_Asp315insProLeuLeuLeuValValLeuLeuG...
ENST00000495767.5:c.*849_*850insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000419658.1:n.*849_*850insGCCCTTGCTTCTTGTCGTACTGCTCGAGG...
ENST00000497830.5:c.*865_*866insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000420088.1:n.*865_*866insGCCCTTGCTTCTTGTCGTACTGCTCGAGG...
ENST00000497959.5:c.1154_1155insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000420648.1:p.Gly385_Asp386insProLeuLeuLeuValValLeuLeuG...
ENST00000539926.5:c.818_819insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000441253.2:p.Gly273_Asp274insProLeuLeuLeuValValLeuLeuG...
ENST00000610757.4:c.818_819insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000480435.1:p.Gly273_Asp274insProLeuLeuLeuValValLeuLeuG...
ENST00000629669.2:c.1154_1155insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT ENSP00000486824.1:p.Gly385_Asp386insProLeuLeuLeuValValLeuLeuG...
NM_001293273.1:c.917_918insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT NP_001280202.1:p.Gly306_Asp307insProLeuLeuLeuValValLeuLeuGluV...
NM_020166.4:c.1268_1269insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT NP_064551.3:p.Gly423_Asp424insProLeuLeuLeuValValLeuLeuGluValG...
NR_120639.1:n.1182_1183insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
NR_120640.1:n.1935_1936insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
XM_006713702.1:c.941_942insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT XP_006713765.1:p.Gly314_Asp315insProLeuLeuLeuValValLeuLeuGluV...
XM_011512992.1:c.1154_1155insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT XP_011511294.1:p.Gly385_Asp386insProLeuLeuLeuValValLeuLeuGluV...
XM_011512993.1:c.1268_1269insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT XP_011511295.1:p.Gly423_Asp424insProLeuLeuLeuValValLeuLeuGluV...
XR_241502.2:n.1415_1416insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
XR_924159.1:n.1415_1416insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
NM_001363880.1:c.941_942insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT NP_001350809.1:p.Gly314_Asp315insProLeuLeuLeuValValLeuLeuGluV...
XM_011512992.2:c.1154_1155insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT XP_011511294.1:p.Gly385_Asp386insProLeuLeuLeuValValLeuLeuGluV...
XR_001740207.2:n.1391_1392insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
XR_001740208.2:n.1391_1392insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
XR_001740209.2:n.1361_1362insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
XR_001740210.1:n.1221_1222insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
XR_002959553.1:n.1391_1392insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
XR_002959554.1:n.1391_1392insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
XR_241502.3:n.1361_1362insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
NM_020166.5:c.1268_1269insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT MANE Select NP_064551.3:p.Gly423_Asp424insProLeuLeuLeuValValLeuLeuGluValG...
NM_001293273.2:c.917_918insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT NP_001280202.1:p.Gly306_Asp307insProLeuLeuLeuValValLeuLeuGluV...
NR_120639.2:n.1091_1092insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT
NR_120640.2:n.1935_1936insGCCCTTGCTTCTTGTCGTACTGCTCGAGGTAGGTGACGGTACTCTGACGCTGTACTTCGACCGTAGGCCAAGAGCCAGCATTGTTGTGGATGATGACGAACTCCTCCTGCTTCCAAGGAGCATTGGGAT