Canonical Allele Identifier: CA2668715770

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039046-ACCTCAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039047_183039053del , CM000665.2:g.183039047_183039053del	GRCh38
NC_000003.11:g.182756835_182756841del , CM000665.1:g.182756835_182756841del	GRCh37
NC_000003.10:g.184239529_184239535del	NCBI36
NG_008100.1:g.65525_65531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1350_1356del MANE Select	ENSP00000265594.4:p.Lys450AsnfsTer?
ENST00000265594.8:c.1350_1356del	ENSP00000265594.4:p.Lys450AsnfsTer?
ENST00000476176.5:c.1209_1215del	ENSP00000420433.1:p.Lys403AsnfsTer?
ENST00000492597.5:c.1023_1029del	ENSP00000419898.1:p.Lys341AsnfsTer?
ENST00000495767.5:c.*931_*937del	ENSP00000419658.1:n.*931_*937del
ENST00000497830.5:c.*947_*953del	ENSP00000420088.1:n.*947_*953del
ENST00000497959.5:c.1236_1242del	ENSP00000420648.1:p.Lys412AsnfsTer16
ENST00000539926.5:c.900_906del	ENSP00000441253.2:p.Lys300AsnfsTer?
ENST00000610757.4:c.900_906del	ENSP00000480435.1:p.Lys300AsnfsTer?
ENST00000629669.2:c.1236_1242del	ENSP00000486824.1:p.Lys412AsnfsTer16
NM_001293273.1:c.999_1005del	NP_001280202.1:p.Lys333AsnfsTer?
NM_020166.4:c.1350_1356del	NP_064551.3:p.Lys450AsnfsTer?
NR_120639.1:n.1264_1270del
NR_120640.1:n.2017_2023del
XM_006713702.1:c.1023_1029del	XP_006713765.1:p.Lys341AsnfsTer?
XM_011512992.1:c.1236_1242del	XP_011511294.1:p.Lys412AsnfsTer?
XM_011512993.1:c.1350_1356del	XP_011511295.1:p.Lys450AsnfsTer16
XR_241502.2:n.1497_1503del
XR_924159.1:n.1497_1503del
NM_001363880.1:c.1023_1029del	NP_001350809.1:p.Lys341AsnfsTer?
XM_011512992.2:c.1236_1242del	XP_011511294.1:p.Lys412AsnfsTer?
XR_001740207.2:n.1473_1479del
XR_001740208.2:n.1473_1479del
XR_001740209.2:n.1443_1449del
XR_001740210.1:n.1303_1309del
XR_002959553.1:n.1473_1479del
XR_002959554.1:n.1473_1479del
XR_241502.3:n.1443_1449del
NM_020166.5:c.1350_1356del MANE Select	NP_064551.3:p.Lys450AsnfsTer?
NM_001293273.2:c.999_1005del	NP_001280202.1:p.Lys333AsnfsTer?
NR_120639.2:n.1173_1179del
NR_120640.2:n.2017_2023del