Canonical Allele Identifier: CA1057149375

Gene: MCCC1

Linked Data

• dbSNP Id: rs1713707890
• gnomAD v3: 3-183037377-ACT-A
• gnomAD v4: 3-183037377-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037380_183037381del , CM000665.2:g.183037380_183037381del	GRCh38
NC_000003.11:g.182755168_182755169del , CM000665.1:g.182755168_182755169del	GRCh37
NC_000003.10:g.184237862_184237863del	NCBI36
NG_008100.1:g.67199_67200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1433_1434del MANE Select	ENSP00000265594.4:p.Glu478ValfsTer2
ENST00000265594.8:c.1433_1434del	ENSP00000265594.4:p.Glu478ValfsTer2
ENST00000476176.5:c.1292_1293del	ENSP00000420433.1:p.Glu431ValfsTer2
ENST00000492597.5:c.1106_1107del	ENSP00000419898.1:p.Glu369ValfsTer2
ENST00000495767.5:c.*1014_*1015del	ENSP00000419658.1:n.*1014_*1015del
ENST00000497830.5:c.*1030_*1031del	ENSP00000420088.1:n.*1030_*1031del
ENST00000497959.5:c.1263+1647_1263+1648del	ENSP00000420648.1:n.1263+1647_1263+1648del
ENST00000539926.5:c.983_984del	ENSP00000441253.2:p.Glu328ValfsTer2
ENST00000610757.4:c.983_984del	ENSP00000480435.1:p.Glu328ValfsTer2
ENST00000629669.2:c.1263+1647_1263+1648del	ENSP00000486824.1:n.1263+1647_1263+1648del
NM_001293273.1:c.1082_1083del	NP_001280202.1:p.Glu361ValfsTer2
NM_020166.4:c.1433_1434del	NP_064551.3:p.Glu478ValfsTer2
NR_120639.1:n.1347_1348del
NR_120640.1:n.2044+1647_2044+1648del
XM_006713702.1:c.1106_1107del	XP_006713765.1:p.Glu369ValfsTer2
XM_011512992.1:c.1319_1320del	XP_011511294.1:p.Glu440ValfsTer2
XM_011512993.1:c.1377+1647_1377+1648del	XP_011511295.1:n.1377+1647_1377+1648del
XR_241502.2:n.1524+1647_1524+1648del
XR_924159.1:n.1580_1581del
NM_001363880.1:c.1106_1107del	NP_001350809.1:p.Glu369ValfsTer2
XM_011512992.2:c.1319_1320del	XP_011511294.1:p.Glu440ValfsTer2
XR_001740207.2:n.1556_1557del
XR_001740208.2:n.1556_1557del
XR_001740209.2:n.1470+1647_1470+1648del
XR_001740210.1:n.1386_1387del
XR_002959553.1:n.1556_1557del
XR_002959554.1:n.1500+1647_1500+1648del
XR_241502.3:n.1470+1647_1470+1648del
NM_020166.5:c.1433_1434del MANE Select	NP_064551.3:p.Glu478ValfsTer2
NM_001293273.2:c.1082_1083del	NP_001280202.1:p.Glu361ValfsTer2
NR_120639.2:n.1256_1257del
NR_120640.2:n.2044+1647_2044+1648del