Canonical Allele Identifier: CA2668715773

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039069-TGGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039070_183039073del , CM000665.2:g.183039070_183039073del	GRCh38
NC_000003.11:g.182756858_182756861del , CM000665.1:g.182756858_182756861del	GRCh37
NC_000003.10:g.184239552_184239555del	NCBI36
NG_008100.1:g.65505_65508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1330_1333del MANE Select	ENSP00000265594.4:p.Gln445ArgfsTer3
ENST00000265594.8:c.1330_1333del	ENSP00000265594.4:p.Gln445ArgfsTer3
ENST00000476176.5:c.1189_1192del	ENSP00000420433.1:p.Gln398ArgfsTer3
ENST00000492597.5:c.1003_1006del	ENSP00000419898.1:p.Gln336ArgfsTer3
ENST00000495767.5:c.*911_*914del	ENSP00000419658.1:n.*911_*914del
ENST00000497830.5:c.*927_*930del	ENSP00000420088.1:n.*927_*930del
ENST00000497959.5:c.1216_1219del	ENSP00000420648.1:p.Gln407ArgfsTer3
ENST00000539926.5:c.880_883del	ENSP00000441253.2:p.Gln295ArgfsTer3
ENST00000610757.4:c.880_883del	ENSP00000480435.1:p.Gln295ArgfsTer3
ENST00000629669.2:c.1216_1219del	ENSP00000486824.1:p.Gln407ArgfsTer3
NM_001293273.1:c.979_982del	NP_001280202.1:p.Gln328ArgfsTer3
NM_020166.4:c.1330_1333del	NP_064551.3:p.Gln445ArgfsTer3
NR_120639.1:n.1244_1247del
NR_120640.1:n.1997_2000del
XM_006713702.1:c.1003_1006del	XP_006713765.1:p.Gln336ArgfsTer3
XM_011512992.1:c.1216_1219del	XP_011511294.1:p.Gln407ArgfsTer3
XM_011512993.1:c.1330_1333del	XP_011511295.1:p.Gln445ArgfsTer3
XR_241502.2:n.1477_1480del
XR_924159.1:n.1477_1480del
NM_001363880.1:c.1003_1006del	NP_001350809.1:p.Gln336ArgfsTer3
XM_011512992.2:c.1216_1219del	XP_011511294.1:p.Gln407ArgfsTer3
XR_001740207.2:n.1453_1456del
XR_001740208.2:n.1453_1456del
XR_001740209.2:n.1423_1426del
XR_001740210.1:n.1283_1286del
XR_002959553.1:n.1453_1456del
XR_002959554.1:n.1453_1456del
XR_241502.3:n.1423_1426del
NM_020166.5:c.1330_1333del MANE Select	NP_064551.3:p.Gln445ArgfsTer3
NM_001293273.2:c.979_982del	NP_001280202.1:p.Gln328ArgfsTer3
NR_120639.2:n.1153_1156del
NR_120640.2:n.1997_2000del