Canonical Allele Identifier: CA1425382218
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183037267_183037290delinsGAGACCCAGGGCTGCCTGGCATAA , CM000665.2:g.183037267_183037290delinsGAGACCCAGGGCTGCCTGGCATAA GRCh38
NC_000003.11:g.182755055_182755078delinsGAGACCCAGGGCTGCCTGGCATAA , CM000665.1:g.182755055_182755078delinsGAGACCCAGGGCTGCCTGGCATAA GRCh37
NC_000003.10:g.184237749_184237772delinsGAGACCCAGGGCTGCCTGGCATAA NCBI36
NG_008100.1:g.67288_67311delinsTTATGCCAGGCAGCCCTGGGTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1522_1545delinsTTATGCCAGGCAGCCCTGGGTCTC MANE Select ENSP00000265594.4:p.Leu508=
ENST00000265594.8:c.1522_1545delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000265594.4:p.Leu508=
ENST00000476176.5:c.1381_1404delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000420433.1:p.Leu461=
ENST00000489909.1:n.66_89delinsTTATGCCAGGCAGCCCTGGGTCTC
ENST00000492597.5:c.1195_1218delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000419898.1:p.Leu399=
ENST00000495767.5:c.*1103_*1126delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000419658.1:n.*1103_*1126delinsTTATGCCAGGCAGCCCTGGGTCTC...
ENST00000497830.5:c.*1119_*1142delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000420088.1:n.*1119_*1142delinsTTATGCCAGGCAGCCCTGGGTCTC...
ENST00000497959.5:c.1263+1736_1263+1759delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000420648.1:n.1263+1736_1263+1759delinsTTATGCCAGGCAGCCC...
ENST00000539926.5:c.1072_1095delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000441253.2:p.Leu358=
ENST00000610757.4:c.1072_1095delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000480435.1:p.Leu358=
ENST00000629669.2:c.1263+1736_1263+1759delinsTTATGCCAGGCAGCCCTGGGTCTC ENSP00000486824.1:n.1263+1736_1263+1759delinsTTATGCCAGGCAGCCC...
NM_001293273.1:c.1171_1194delinsTTATGCCAGGCAGCCCTGGGTCTC NP_001280202.1:p.Leu391=
NM_020166.4:c.1522_1545delinsTTATGCCAGGCAGCCCTGGGTCTC NP_064551.3:p.Leu508=
NR_120639.1:n.1436_1459delinsTTATGCCAGGCAGCCCTGGGTCTC
NR_120640.1:n.2044+1736_2044+1759delinsTTATGCCAGGCAGCCCTGGGTCTC
XM_006713702.1:c.1195_1218delinsTTATGCCAGGCAGCCCTGGGTCTC XP_006713765.1:p.Leu399=
XM_011512992.1:c.1408_1431delinsTTATGCCAGGCAGCCCTGGGTCTC XP_011511294.1:p.Leu470=
XM_011512993.1:c.1377+1736_1377+1759delinsTTATGCCAGGCAGCCCTGGGTCTC XP_011511295.1:n.1377+1736_1377+1759delinsTTATGCCAGGCAGCCCTGG...
XR_241502.2:n.1524+1736_1524+1759delinsTTATGCCAGGCAGCCCTGGGTCTC
XR_924159.1:n.1669_1692delinsTTATGCCAGGCAGCCCTGGGTCTC
NM_001363880.1:c.1195_1218delinsTTATGCCAGGCAGCCCTGGGTCTC NP_001350809.1:p.Leu399=
XM_011512992.2:c.1408_1431delinsTTATGCCAGGCAGCCCTGGGTCTC XP_011511294.1:p.Leu470=
XR_001740207.2:n.1645_1668delinsTTATGCCAGGCAGCCCTGGGTCTC
XR_001740208.2:n.1645_1668delinsTTATGCCAGGCAGCCCTGGGTCTC
XR_001740209.2:n.1470+1736_1470+1759delinsTTATGCCAGGCAGCCCTGGGTCTC
XR_001740210.1:n.1475_1498delinsTTATGCCAGGCAGCCCTGGGTCTC
XR_002959553.1:n.1645_1668delinsTTATGCCAGGCAGCCCTGGGTCTC
XR_002959554.1:n.1500+1736_1500+1759delinsTTATGCCAGGCAGCCCTGGGTCTC
XR_241502.3:n.1470+1736_1470+1759delinsTTATGCCAGGCAGCCCTGGGTCTC
NM_020166.5:c.1522_1545delinsTTATGCCAGGCAGCCCTGGGTCTC MANE Select NP_064551.3:p.Leu508=
NM_001293273.2:c.1171_1194delinsTTATGCCAGGCAGCCCTGGGTCTC NP_001280202.1:p.Leu391=
NR_120639.2:n.1345_1368delinsTTATGCCAGGCAGCCCTGGGTCTC
NR_120640.2:n.2044+1736_2044+1759delinsTTATGCCAGGCAGCCCTGGGTCTC