Canonical Allele Identifier: CA2586973250

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 2676448
• ClinVar RCV Id: RCV003461829

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037294del , CM000665.2:g.183037294del	GRCh38
NC_000003.11:g.182755082del , CM000665.1:g.182755082del	GRCh37
NC_000003.10:g.184237776del	NCBI36
NG_008100.1:g.67284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1518del MANE Select	ENSP00000265594.4:p.Glu506AspfsTer17
ENST00000265594.8:c.1518del	ENSP00000265594.4:p.Glu506AspfsTer17
ENST00000476176.5:c.1377del	ENSP00000420433.1:p.Glu459AspfsTer17
ENST00000489909.1:n.62del
ENST00000492597.5:c.1191del	ENSP00000419898.1:p.Glu397AspfsTer17
ENST00000495767.5:c.*1099del	ENSP00000419658.1:n.*1099del
ENST00000497830.5:c.*1115del	ENSP00000420088.1:n.*1115del
ENST00000497959.5:c.1263+1732del	ENSP00000420648.1:n.1263+1732del
ENST00000539926.5:c.1068del	ENSP00000441253.2:p.Glu356AspfsTer17
ENST00000610757.4:c.1068del	ENSP00000480435.1:p.Glu356AspfsTer17
ENST00000629669.2:c.1263+1732del	ENSP00000486824.1:n.1263+1732del
NM_001293273.1:c.1167del	NP_001280202.1:p.Glu389AspfsTer17
NM_020166.4:c.1518del	NP_064551.3:p.Glu506AspfsTer17
NR_120639.1:n.1432del
NR_120640.1:n.2044+1732del
XM_006713702.1:c.1191del	XP_006713765.1:p.Glu397AspfsTer17
XM_011512992.1:c.1404del	XP_011511294.1:p.Glu468AspfsTer17
XM_011512993.1:c.1377+1732del	XP_011511295.1:n.1377+1732del
XR_241502.2:n.1524+1732del
XR_924159.1:n.1665del
NM_001363880.1:c.1191del	NP_001350809.1:p.Glu397AspfsTer17
XM_011512992.2:c.1404del	XP_011511294.1:p.Glu468AspfsTer17
XR_001740207.2:n.1641del
XR_001740208.2:n.1641del
XR_001740209.2:n.1470+1732del
XR_001740210.1:n.1471del
XR_002959553.1:n.1641del
XR_002959554.1:n.1500+1732del
XR_241502.3:n.1470+1732del
NM_020166.5:c.1518del MANE Select	NP_064551.3:p.Glu506AspfsTer17
NM_001293273.2:c.1167del	NP_001280202.1:p.Glu389AspfsTer17
NR_120639.2:n.1341del
NR_120640.2:n.2044+1732del