Canonical Allele Identifier: CA2668715777

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039099-G-GTATGACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039099_183039100insTATGACTC , CM000665.2:g.183039099_183039100insTATGACTC	GRCh38
NC_000003.11:g.182756887_182756888insTATGACTC , CM000665.1:g.182756887_182756888insTATGACTC	GRCh37
NC_000003.10:g.184239581_184239582insTATGACTC	NCBI36
NG_008100.1:g.65478_65479insGAGTCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1303_1304insGAGTCATA MANE Select	ENSP00000265594.4:p.Ala435GlyfsTer17
ENST00000265594.8:c.1303_1304insGAGTCATA	ENSP00000265594.4:p.Ala435GlyfsTer17
ENST00000476176.5:c.1162_1163insGAGTCATA	ENSP00000420433.1:p.Ala388GlyfsTer17
ENST00000492597.5:c.976_977insGAGTCATA	ENSP00000419898.1:p.Ala326GlyfsTer17
ENST00000495767.5:c.*884_*885insGAGTCATA	ENSP00000419658.1:n.*884_*885insGAGTCATA
ENST00000497830.5:c.*900_*901insGAGTCATA	ENSP00000420088.1:n.*900_*901insGAGTCATA
ENST00000497959.5:c.1189_1190insGAGTCATA	ENSP00000420648.1:p.Ala397GlyfsTer17
ENST00000539926.5:c.853_854insGAGTCATA	ENSP00000441253.2:p.Ala285GlyfsTer17
ENST00000610757.4:c.853_854insGAGTCATA	ENSP00000480435.1:p.Ala285GlyfsTer17
ENST00000629669.2:c.1189_1190insGAGTCATA	ENSP00000486824.1:p.Ala397GlyfsTer17
NM_001293273.1:c.952_953insGAGTCATA	NP_001280202.1:p.Ala318GlyfsTer17
NM_020166.4:c.1303_1304insGAGTCATA	NP_064551.3:p.Ala435GlyfsTer17
NR_120639.1:n.1217_1218insGAGTCATA
NR_120640.1:n.1970_1971insGAGTCATA
XM_006713702.1:c.976_977insGAGTCATA	XP_006713765.1:p.Ala326GlyfsTer17
XM_011512992.1:c.1189_1190insGAGTCATA	XP_011511294.1:p.Ala397GlyfsTer17
XM_011512993.1:c.1303_1304insGAGTCATA	XP_011511295.1:p.Ala435GlyfsTer17
XR_241502.2:n.1450_1451insGAGTCATA
XR_924159.1:n.1450_1451insGAGTCATA
NM_001363880.1:c.976_977insGAGTCATA	NP_001350809.1:p.Ala326GlyfsTer17
XM_011512992.2:c.1189_1190insGAGTCATA	XP_011511294.1:p.Ala397GlyfsTer17
XR_001740207.2:n.1426_1427insGAGTCATA
XR_001740208.2:n.1426_1427insGAGTCATA
XR_001740209.2:n.1396_1397insGAGTCATA
XR_001740210.1:n.1256_1257insGAGTCATA
XR_002959553.1:n.1426_1427insGAGTCATA
XR_002959554.1:n.1426_1427insGAGTCATA
XR_241502.3:n.1396_1397insGAGTCATA
NM_020166.5:c.1303_1304insGAGTCATA MANE Select	NP_064551.3:p.Ala435GlyfsTer17
NM_001293273.2:c.952_953insGAGTCATA	NP_001280202.1:p.Ala318GlyfsTer17
NR_120639.2:n.1126_1127insGAGTCATA
NR_120640.2:n.1970_1971insGAGTCATA