Canonical Allele Identifier: CA2577969843

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039084del , CM000665.2:g.183039084del	GRCh38
NC_000003.11:g.182756872del , CM000665.1:g.182756872del	GRCh37
NC_000003.10:g.184239566del	NCBI36
NG_008100.1:g.65496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1321del MANE Select	ENSP00000265594.4:p.Ala441GlnfsTer8
ENST00000265594.8:c.1321del	ENSP00000265594.4:p.Ala441GlnfsTer8
ENST00000476176.5:c.1180del	ENSP00000420433.1:p.Ala394GlnfsTer8
ENST00000492597.5:c.994del	ENSP00000419898.1:p.Ala332GlnfsTer8
ENST00000495767.5:c.*902del	ENSP00000419658.1:n.*902del
ENST00000497830.5:c.*918del	ENSP00000420088.1:n.*918del
ENST00000497959.5:c.1207del	ENSP00000420648.1:p.Ala403GlnfsTer8
ENST00000539926.5:c.871del	ENSP00000441253.2:p.Ala291GlnfsTer8
ENST00000610757.4:c.871del	ENSP00000480435.1:p.Ala291GlnfsTer8
ENST00000629669.2:c.1207del	ENSP00000486824.1:p.Ala403GlnfsTer8
NM_001293273.1:c.970del	NP_001280202.1:p.Ala324GlnfsTer8
NM_020166.4:c.1321del	NP_064551.3:p.Ala441GlnfsTer8
NR_120639.1:n.1235del
NR_120640.1:n.1988del
XM_006713702.1:c.994del	XP_006713765.1:p.Ala332GlnfsTer8
XM_011512992.1:c.1207del	XP_011511294.1:p.Ala403GlnfsTer8
XM_011512993.1:c.1321del	XP_011511295.1:p.Ala441GlnfsTer8
XR_241502.2:n.1468del
XR_924159.1:n.1468del
NM_001363880.1:c.994del	NP_001350809.1:p.Ala332GlnfsTer8
XM_011512992.2:c.1207del	XP_011511294.1:p.Ala403GlnfsTer8
XR_001740207.2:n.1444del
XR_001740208.2:n.1444del
XR_001740209.2:n.1414del
XR_001740210.1:n.1274del
XR_002959553.1:n.1444del
XR_002959554.1:n.1444del
XR_241502.3:n.1414del
NM_020166.5:c.1321del MANE Select	NP_064551.3:p.Ala441GlnfsTer8
NM_001293273.2:c.970del	NP_001280202.1:p.Ala324GlnfsTer8
NR_120639.2:n.1144del
NR_120640.2:n.1988del