Canonical Allele Identifier: CA2668715776
Gene: MCCC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039092_183039095del , CM000665.2:g.183039092_183039095del GRCh38
NC_000003.11:g.182756880_182756883del , CM000665.1:g.182756880_182756883del GRCh37
NC_000003.10:g.184239574_184239577del NCBI36
NG_008100.1:g.65484_65487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1309_1312del MANE Select ENSP00000265594.4:p.Leu437SerfsTer11
ENST00000265594.8:c.1309_1312del ENSP00000265594.4:p.Leu437SerfsTer11
ENST00000476176.5:c.1168_1171del ENSP00000420433.1:p.Leu390SerfsTer11
ENST00000492597.5:c.982_985del ENSP00000419898.1:p.Leu328SerfsTer11
ENST00000495767.5:c.*890_*893del ENSP00000419658.1:n.*890_*893del
ENST00000497830.5:c.*906_*909del ENSP00000420088.1:n.*906_*909del
ENST00000497959.5:c.1195_1198del ENSP00000420648.1:p.Leu399SerfsTer11
ENST00000539926.5:c.859_862del ENSP00000441253.2:p.Leu287SerfsTer11
ENST00000610757.4:c.859_862del ENSP00000480435.1:p.Leu287SerfsTer11
ENST00000629669.2:c.1195_1198del ENSP00000486824.1:p.Leu399SerfsTer11
NM_001293273.1:c.958_961del NP_001280202.1:p.Leu320SerfsTer11
NM_020166.4:c.1309_1312del NP_064551.3:p.Leu437SerfsTer11
NR_120639.1:n.1223_1226del
NR_120640.1:n.1976_1979del
XM_006713702.1:c.982_985del XP_006713765.1:p.Leu328SerfsTer11
XM_011512992.1:c.1195_1198del XP_011511294.1:p.Leu399SerfsTer11
XM_011512993.1:c.1309_1312del XP_011511295.1:p.Leu437SerfsTer11
XR_241502.2:n.1456_1459del
XR_924159.1:n.1456_1459del
NM_001363880.1:c.982_985del NP_001350809.1:p.Leu328SerfsTer11
XM_011512992.2:c.1195_1198del XP_011511294.1:p.Leu399SerfsTer11
XR_001740207.2:n.1432_1435del
XR_001740208.2:n.1432_1435del
XR_001740209.2:n.1402_1405del
XR_001740210.1:n.1262_1265del
XR_002959553.1:n.1432_1435del
XR_002959554.1:n.1432_1435del
XR_241502.3:n.1402_1405del
NM_020166.5:c.1309_1312del MANE Select NP_064551.3:p.Leu437SerfsTer11
NM_001293273.2:c.958_961del NP_001280202.1:p.Leu320SerfsTer11
NR_120639.2:n.1132_1135del
NR_120640.2:n.1976_1979del