Canonical Allele Identifier: CA2668715775
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039076_183039088del , CM000665.2:g.183039076_183039088del GRCh38
NC_000003.11:g.182756864_182756876del , CM000665.1:g.182756864_182756876del GRCh37
NC_000003.10:g.184239558_184239570del NCBI36
NG_008100.1:g.65490_65502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1315_1327del MANE Select ENSP00000265594.4:p.Val439IlefsTer6
ENST00000265594.8:c.1315_1327del ENSP00000265594.4:p.Val439IlefsTer6
ENST00000476176.5:c.1174_1186del ENSP00000420433.1:p.Val392IlefsTer6
ENST00000492597.5:c.988_1000del ENSP00000419898.1:p.Val330IlefsTer6
ENST00000495767.5:c.*896_*908del ENSP00000419658.1:n.*896_*908del
ENST00000497830.5:c.*912_*924del ENSP00000420088.1:n.*912_*924del
ENST00000497959.5:c.1201_1213del ENSP00000420648.1:p.Val401IlefsTer6
ENST00000539926.5:c.865_877del ENSP00000441253.2:p.Val289IlefsTer6
ENST00000610757.4:c.865_877del ENSP00000480435.1:p.Val289IlefsTer6
ENST00000629669.2:c.1201_1213del ENSP00000486824.1:p.Val401IlefsTer6
NM_001293273.1:c.964_976del NP_001280202.1:p.Val322IlefsTer6
NM_020166.4:c.1315_1327del NP_064551.3:p.Val439IlefsTer6
NR_120639.1:n.1229_1241del
NR_120640.1:n.1982_1994del
XM_006713702.1:c.988_1000del XP_006713765.1:p.Val330IlefsTer6
XM_011512992.1:c.1201_1213del XP_011511294.1:p.Val401IlefsTer6
XM_011512993.1:c.1315_1327del XP_011511295.1:p.Val439IlefsTer6
XR_241502.2:n.1462_1474del
XR_924159.1:n.1462_1474del
NM_001363880.1:c.988_1000del NP_001350809.1:p.Val330IlefsTer6
XM_011512992.2:c.1201_1213del XP_011511294.1:p.Val401IlefsTer6
XR_001740207.2:n.1438_1450del
XR_001740208.2:n.1438_1450del
XR_001740209.2:n.1408_1420del
XR_001740210.1:n.1268_1280del
XR_002959553.1:n.1438_1450del
XR_002959554.1:n.1438_1450del
XR_241502.3:n.1408_1420del
NM_020166.5:c.1315_1327del MANE Select NP_064551.3:p.Val439IlefsTer6
NM_001293273.2:c.964_976del NP_001280202.1:p.Val322IlefsTer6
NR_120639.2:n.1138_1150del
NR_120640.2:n.1982_1994del