Canonical Allele Identifier: CA1425382339

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037548_183037551delinsTAAA , CM000665.2:g.183037548_183037551delinsTAAA	GRCh38
NC_000003.11:g.182755336_182755339delinsTAAA , CM000665.1:g.182755336_182755339delinsTAAA	GRCh37
NC_000003.10:g.184238030_184238033delinsTAAA	NCBI36
NG_008100.1:g.67027_67030delinsTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1378-117_1378-114delinsTTTA MANE Select	ENSP00000265594.4:n.1378-117_1378-114delinsTTTA
ENST00000265594.8:c.1378-117_1378-114delinsTTTA	ENSP00000265594.4:n.1378-117_1378-114delinsTTTA
ENST00000476176.5:c.1237-117_1237-114delinsTTTA	ENSP00000420433.1:n.1237-117_1237-114delinsTTTA
ENST00000492597.5:c.1051-117_1051-114delinsTTTA	ENSP00000419898.1:n.1051-117_1051-114delinsTTTA
ENST00000495767.5:c.*959-117_*959-114delinsTTTA	ENSP00000419658.1:n.*959-117_*959-114delinsTTTA
ENST00000497830.5:c.*975-117_*975-114delinsTTTA	ENSP00000420088.1:n.*975-117_*975-114delinsTTTA
ENST00000497959.5:c.1263+1475_1263+1478delinsTTTA	ENSP00000420648.1:n.1263+1475_1263+1478delinsTTTA
ENST00000539926.5:c.928-117_928-114delinsTTTA	ENSP00000441253.2:n.928-117_928-114delinsTTTA
ENST00000610757.4:c.928-117_928-114delinsTTTA	ENSP00000480435.1:n.928-117_928-114delinsTTTA
ENST00000629669.2:c.1263+1475_1263+1478delinsTTTA	ENSP00000486824.1:n.1263+1475_1263+1478delinsTTTA
NM_001293273.1:c.1027-117_1027-114delinsTTTA	NP_001280202.1:n.1027-117_1027-114delinsTTTA
NM_020166.4:c.1378-117_1378-114delinsTTTA	NP_064551.3:n.1378-117_1378-114delinsTTTA
NR_120639.1:n.1292-117_1292-114delinsTTTA
NR_120640.1:n.2044+1475_2044+1478delinsTTTA
XM_006713702.1:c.1051-117_1051-114delinsTTTA	XP_006713765.1:n.1051-117_1051-114delinsTTTA
XM_011512992.1:c.1264-117_1264-114delinsTTTA	XP_011511294.1:n.1264-117_1264-114delinsTTTA
XM_011512993.1:c.1377+1475_1377+1478delinsTTTA	XP_011511295.1:n.1377+1475_1377+1478delinsTTTA
XR_241502.2:n.1524+1475_1524+1478delinsTTTA
XR_924159.1:n.1525-117_1525-114delinsTTTA
NM_001363880.1:c.1051-117_1051-114delinsTTTA	NP_001350809.1:n.1051-117_1051-114delinsTTTA
XM_011512992.2:c.1264-117_1264-114delinsTTTA	XP_011511294.1:n.1264-117_1264-114delinsTTTA
XR_001740207.2:n.1501-117_1501-114delinsTTTA
XR_001740208.2:n.1501-117_1501-114delinsTTTA
XR_001740209.2:n.1470+1475_1470+1478delinsTTTA
XR_001740210.1:n.1331-117_1331-114delinsTTTA
XR_002959553.1:n.1501-117_1501-114delinsTTTA
XR_002959554.1:n.1500+1475_1500+1478delinsTTTA
XR_241502.3:n.1470+1475_1470+1478delinsTTTA
NM_020166.5:c.1378-117_1378-114delinsTTTA MANE Select	NP_064551.3:n.1378-117_1378-114delinsTTTA
NM_001293273.2:c.1027-117_1027-114delinsTTTA	NP_001280202.1:n.1027-117_1027-114delinsTTTA
NR_120639.2:n.1201-117_1201-114delinsTTTA
NR_120640.2:n.2044+1475_2044+1478delinsTTTA