Canonical Allele Identifier: CA2697557014

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183017301del , CM000665.2:g.183017301del	GRCh38
NC_000003.11:g.182735089del , CM000665.1:g.182735089del	GRCh37
NC_000003.10:g.184217783del	NCBI36
NG_008100.1:g.87277del

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.2014del MANE Select	NP_064551.3:p.Asp672IlefsTer6
ENST00000265594.9:c.2014del MANE Select	ENSP00000265594.4:p.Asp672IlefsTer6
NM_001293273.1:c.1663del	NP_001280202.1:p.Asp555IlefsTer6
NM_001293273.2:c.1663del	NP_001280202.1:p.Asp555IlefsTer6
NM_001363880.1:c.1687del	NP_001350809.1:p.Asp563IlefsTer6
NM_020166.4:c.2014del	NP_064551.3:p.Asp672IlefsTer6
NR_120639.1:n.1878del
NR_120639.2:n.1787del
NR_120640.1:n.2561del
NR_120640.2:n.2561del
ENST00000265594.8:c.2014del	ENSP00000265594.4:p.Asp672IlefsTer6
ENST00000464601.5:n.446del
ENST00000492597.5:c.1687del	ENSP00000419898.1:p.Asp563IlefsTer6
ENST00000495767.5:c.*1545del	ENSP00000419658.1:n.*1545del
ENST00000497830.5:c.*1611del	ENSP00000420088.1:n.*1611del
ENST00000497959.5:c.*475del	ENSP00000420648.1:n.*475del
ENST00000539926.5:c.1564del	ENSP00000441253.2:p.Asp522IlefsTer6
ENST00000610757.4:c.1564del	ENSP00000480435.1:p.Asp522IlefsTer6
ENST00000629669.2:c.*378del	ENSP00000486824.1:n.*378del
XM_006713702.1:c.1687del	XP_006713765.1:p.Asp563IlefsTer6
XM_011512992.1:c.1900del	XP_011511294.1:p.Asp634IlefsTer6
XM_011512992.2:c.1900del	XP_011511294.1:p.Asp634IlefsTer6
XR_001740207.2:n.2234del
XR_001740208.2:n.2087del
XR_001740209.2:n.1840del
XR_001740210.1:n.1917del
XR_241502.2:n.1944del
XR_241502.3:n.1890del