Canonical Allele Identifier: CA1425382336

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037547_183037548delinsAT , CM000665.2:g.183037547_183037548delinsAT	GRCh38
NC_000003.11:g.182755335_182755336delinsAT , CM000665.1:g.182755335_182755336delinsAT	GRCh37
NC_000003.10:g.184238029_184238030delinsAT	NCBI36
NG_008100.1:g.67030_67031delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1378-114_1378-113delinsAT MANE Select	ENSP00000265594.4:n.1378-114_1378-113delinsAT
ENST00000265594.8:c.1378-114_1378-113delinsAT	ENSP00000265594.4:n.1378-114_1378-113delinsAT
ENST00000476176.5:c.1237-114_1237-113delinsAT	ENSP00000420433.1:n.1237-114_1237-113delinsAT
ENST00000492597.5:c.1051-114_1051-113delinsAT	ENSP00000419898.1:n.1051-114_1051-113delinsAT
ENST00000495767.5:c.*959-114_*959-113delinsAT	ENSP00000419658.1:n.*959-114_*959-113delinsAT
ENST00000497830.5:c.*975-114_*975-113delinsAT	ENSP00000420088.1:n.*975-114_*975-113delinsAT
ENST00000497959.5:c.1263+1478_1263+1479delinsAT	ENSP00000420648.1:n.1263+1478_1263+1479delinsAT
ENST00000539926.5:c.928-114_928-113delinsAT	ENSP00000441253.2:n.928-114_928-113delinsAT
ENST00000610757.4:c.928-114_928-113delinsAT	ENSP00000480435.1:n.928-114_928-113delinsAT
ENST00000629669.2:c.1263+1478_1263+1479delinsAT	ENSP00000486824.1:n.1263+1478_1263+1479delinsAT
NM_001293273.1:c.1027-114_1027-113delinsAT	NP_001280202.1:n.1027-114_1027-113delinsAT
NM_020166.4:c.1378-114_1378-113delinsAT	NP_064551.3:n.1378-114_1378-113delinsAT
NR_120639.1:n.1292-114_1292-113delinsAT
NR_120640.1:n.2044+1478_2044+1479delinsAT
XM_006713702.1:c.1051-114_1051-113delinsAT	XP_006713765.1:n.1051-114_1051-113delinsAT
XM_011512992.1:c.1264-114_1264-113delinsAT	XP_011511294.1:n.1264-114_1264-113delinsAT
XM_011512993.1:c.1377+1478_1377+1479delinsAT	XP_011511295.1:n.1377+1478_1377+1479delinsAT
XR_241502.2:n.1524+1478_1524+1479delinsAT
XR_924159.1:n.1525-114_1525-113delinsAT
NM_001363880.1:c.1051-114_1051-113delinsAT	NP_001350809.1:n.1051-114_1051-113delinsAT
XM_011512992.2:c.1264-114_1264-113delinsAT	XP_011511294.1:n.1264-114_1264-113delinsAT
XR_001740207.2:n.1501-114_1501-113delinsAT
XR_001740208.2:n.1501-114_1501-113delinsAT
XR_001740209.2:n.1470+1478_1470+1479delinsAT
XR_001740210.1:n.1331-114_1331-113delinsAT
XR_002959553.1:n.1501-114_1501-113delinsAT
XR_002959554.1:n.1500+1478_1500+1479delinsAT
XR_241502.3:n.1470+1478_1470+1479delinsAT
NM_020166.5:c.1378-114_1378-113delinsAT MANE Select	NP_064551.3:n.1378-114_1378-113delinsAT
NM_001293273.2:c.1027-114_1027-113delinsAT	NP_001280202.1:n.1027-114_1027-113delinsAT
NR_120639.2:n.1201-114_1201-113delinsAT
NR_120640.2:n.2044+1478_2044+1479delinsAT