Canonical Allele Identifier: CA1425382224

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037285_183037286delinsGC , CM000665.2:g.183037285_183037286delinsGC	GRCh38
NC_000003.11:g.182755073_182755074delinsGC , CM000665.1:g.182755073_182755074delinsGC	GRCh37
NC_000003.10:g.184237767_184237768delinsGC	NCBI36
NG_008100.1:g.67292_67293delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1526_1527delinsGC MANE Select	ENSP00000265594.4:p.Cys509=
ENST00000265594.8:c.1526_1527delinsGC	ENSP00000265594.4:p.Cys509=
ENST00000476176.5:c.1385_1386delinsGC	ENSP00000420433.1:p.Cys462=
ENST00000489909.1:n.70_71delinsGC
ENST00000492597.5:c.1199_1200delinsGC	ENSP00000419898.1:p.Cys400=
ENST00000495767.5:c.*1107_*1108delinsGC	ENSP00000419658.1:n.*1107_*1108delinsGC
ENST00000497830.5:c.*1123_*1124delinsGC	ENSP00000420088.1:n.*1123_*1124delinsGC
ENST00000497959.5:c.1263+1740_1263+1741delinsGC	ENSP00000420648.1:n.1263+1740_1263+1741delinsGC
ENST00000539926.5:c.1076_1077delinsGC	ENSP00000441253.2:p.Cys359=
ENST00000610757.4:c.1076_1077delinsGC	ENSP00000480435.1:p.Cys359=
ENST00000629669.2:c.1263+1740_1263+1741delinsGC	ENSP00000486824.1:n.1263+1740_1263+1741delinsGC
NM_001293273.1:c.1175_1176delinsGC	NP_001280202.1:p.Cys392=
NM_020166.4:c.1526_1527delinsGC	NP_064551.3:p.Cys509=
NR_120639.1:n.1440_1441delinsGC
NR_120640.1:n.2044+1740_2044+1741delinsGC
XM_006713702.1:c.1199_1200delinsGC	XP_006713765.1:p.Cys400=
XM_011512992.1:c.1412_1413delinsGC	XP_011511294.1:p.Cys471=
XM_011512993.1:c.1377+1740_1377+1741delinsGC	XP_011511295.1:n.1377+1740_1377+1741delinsGC
XR_241502.2:n.1524+1740_1524+1741delinsGC
XR_924159.1:n.1673_1674delinsGC
NM_001363880.1:c.1199_1200delinsGC	NP_001350809.1:p.Cys400=
XM_011512992.2:c.1412_1413delinsGC	XP_011511294.1:p.Cys471=
XR_001740207.2:n.1649_1650delinsGC
XR_001740208.2:n.1649_1650delinsGC
XR_001740209.2:n.1470+1740_1470+1741delinsGC
XR_001740210.1:n.1479_1480delinsGC
XR_002959553.1:n.1649_1650delinsGC
XR_002959554.1:n.1500+1740_1500+1741delinsGC
XR_241502.3:n.1470+1740_1470+1741delinsGC
NM_020166.5:c.1526_1527delinsGC MANE Select	NP_064551.3:p.Cys509=
NM_001293273.2:c.1175_1176delinsGC	NP_001280202.1:p.Cys392=
NR_120639.2:n.1349_1350delinsGC
NR_120640.2:n.2044+1740_2044+1741delinsGC