Canonical Allele Identifier: CA2668715370

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183037288-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037290_183037291del , CM000665.2:g.183037290_183037291del	GRCh38
NC_000003.11:g.182755078_182755079del , CM000665.1:g.182755078_182755079del	GRCh37
NC_000003.10:g.184237772_184237773del	NCBI36
NG_008100.1:g.67288_67289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1522_1523del MANE Select	ENSP00000265594.4:p.Leu508MetfsTer24
ENST00000265594.8:c.1522_1523del	ENSP00000265594.4:p.Leu508MetfsTer24
ENST00000476176.5:c.1381_1382del	ENSP00000420433.1:p.Leu461MetfsTer24
ENST00000489909.1:n.66_67del
ENST00000492597.5:c.1195_1196del	ENSP00000419898.1:p.Leu399MetfsTer24
ENST00000495767.5:c.*1103_*1104del	ENSP00000419658.1:n.*1103_*1104del
ENST00000497830.5:c.*1119_*1120del	ENSP00000420088.1:n.*1119_*1120del
ENST00000497959.5:c.1263+1736_1263+1737del	ENSP00000420648.1:n.1263+1736_1263+1737del
ENST00000539926.5:c.1072_1073del	ENSP00000441253.2:p.Leu358MetfsTer24
ENST00000610757.4:c.1072_1073del	ENSP00000480435.1:p.Leu358MetfsTer24
ENST00000629669.2:c.1263+1736_1263+1737del	ENSP00000486824.1:n.1263+1736_1263+1737del
NM_001293273.1:c.1171_1172del	NP_001280202.1:p.Leu391MetfsTer24
NM_020166.4:c.1522_1523del	NP_064551.3:p.Leu508MetfsTer24
NR_120639.1:n.1436_1437del
NR_120640.1:n.2044+1736_2044+1737del
XM_006713702.1:c.1195_1196del	XP_006713765.1:p.Leu399MetfsTer24
XM_011512992.1:c.1408_1409del	XP_011511294.1:p.Leu470MetfsTer24
XM_011512993.1:c.1377+1736_1377+1737del	XP_011511295.1:n.1377+1736_1377+1737del
XR_241502.2:n.1524+1736_1524+1737del
XR_924159.1:n.1669_1670del
NM_001363880.1:c.1195_1196del	NP_001350809.1:p.Leu399MetfsTer24
XM_011512992.2:c.1408_1409del	XP_011511294.1:p.Leu470MetfsTer24
XR_001740207.2:n.1645_1646del
XR_001740208.2:n.1645_1646del
XR_001740209.2:n.1470+1736_1470+1737del
XR_001740210.1:n.1475_1476del
XR_002959553.1:n.1645_1646del
XR_002959554.1:n.1500+1736_1500+1737del
XR_241502.3:n.1470+1736_1470+1737del
NM_020166.5:c.1522_1523del MANE Select	NP_064551.3:p.Leu508MetfsTer24
NM_001293273.2:c.1171_1172del	NP_001280202.1:p.Leu391MetfsTer24
NR_120639.2:n.1345_1346del
NR_120640.2:n.2044+1736_2044+1737del