Canonical Allele Identifier: CA2668715772

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039062-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039063del , CM000665.2:g.183039063del	GRCh38
NC_000003.11:g.182756851del , CM000665.1:g.182756851del	GRCh37
NC_000003.10:g.184239545del	NCBI36
NG_008100.1:g.65515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1340del MANE Select	ENSP00000265594.4:p.Ala447AspfsTer2
ENST00000265594.8:c.1340del	ENSP00000265594.4:p.Ala447AspfsTer2
ENST00000476176.5:c.1199del	ENSP00000420433.1:p.Ala400AspfsTer2
ENST00000492597.5:c.1013del	ENSP00000419898.1:p.Ala338AspfsTer2
ENST00000495767.5:c.*921del	ENSP00000419658.1:n.*921del
ENST00000497830.5:c.*937del	ENSP00000420088.1:n.*937del
ENST00000497959.5:c.1226del	ENSP00000420648.1:p.Ala409AspfsTer2
ENST00000539926.5:c.890del	ENSP00000441253.2:p.Ala297AspfsTer2
ENST00000610757.4:c.890del	ENSP00000480435.1:p.Ala297AspfsTer2
ENST00000629669.2:c.1226del	ENSP00000486824.1:p.Ala409AspfsTer2
NM_001293273.1:c.989del	NP_001280202.1:p.Ala330AspfsTer2
NM_020166.4:c.1340del	NP_064551.3:p.Ala447AspfsTer2
NR_120639.1:n.1254del
NR_120640.1:n.2007del
XM_006713702.1:c.1013del	XP_006713765.1:p.Ala338AspfsTer2
XM_011512992.1:c.1226del	XP_011511294.1:p.Ala409AspfsTer2
XM_011512993.1:c.1340del	XP_011511295.1:p.Ala447AspfsTer2
XR_241502.2:n.1487del
XR_924159.1:n.1487del
NM_001363880.1:c.1013del	NP_001350809.1:p.Ala338AspfsTer2
XM_011512992.2:c.1226del	XP_011511294.1:p.Ala409AspfsTer2
XR_001740207.2:n.1463del
XR_001740208.2:n.1463del
XR_001740209.2:n.1433del
XR_001740210.1:n.1293del
XR_002959553.1:n.1463del
XR_002959554.1:n.1463del
XR_241502.3:n.1433del
NM_020166.5:c.1340del MANE Select	NP_064551.3:p.Ala447AspfsTer2
NM_001293273.2:c.989del	NP_001280202.1:p.Ala330AspfsTer2
NR_120639.2:n.1163del
NR_120640.2:n.2007del