Canonical Allele Identifier: CA2718530

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015398_183015423del , CM000665.2:g.183015398_183015423del	GRCh38
NC_000003.11:g.182733186_182733211del , CM000665.1:g.182733186_182733211del	GRCh37
NC_000003.10:g.184215880_184215905del	NCBI36
NG_008100.1:g.89155_89180del

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.*15_*40del MANE Select	NP_064551.3:n.*15_*40del
ENST00000265594.9:c.*15_*40del MANE Select	ENSP00000265594.4:n.*15_*40del
NM_001293273.1:c.*15_*40del	NP_001280202.1:n.*15_*40del
NM_001293273.2:c.*15_*40del	NP_001280202.1:n.*15_*40del
NM_001363880.1:c.*15_*40del	NP_001350809.1:n.*15_*40del
NM_020166.4:c.*15_*40del	NP_064551.3:n.*15_*40del
NR_120639.1:n.2057_2082del
NR_120639.2:n.1966_1991del
NR_120640.1:n.2740_2765del
NR_120640.2:n.2740_2765del
ENST00000265594.8:c.*15_*40del	ENSP00000265594.4:n.*15_*40del
ENST00000464601.5:n.625_650del
ENST00000492597.5:c.*15_*40del	ENSP00000419898.1:n.*15_*40del
ENST00000497830.5:c.*1790_*1815del	ENSP00000420088.1:n.*1790_*1815del
ENST00000497959.5:c.*654_*679del	ENSP00000420648.1:n.*654_*679del
ENST00000539926.5:c.*15_*40del	ENSP00000441253.2:n.*15_*40del
ENST00000610757.4:c.*15_*40del	ENSP00000480435.1:n.*15_*40del
ENST00000629669.2:c.*557_*582del	ENSP00000486824.1:n.*557_*582del
XM_006713702.1:c.*15_*40del	XP_006713765.1:n.*15_*40del
XM_011512992.1:c.*15_*40del	XP_011511294.1:n.*15_*40del
XM_011512992.2:c.*15_*40del	XP_011511294.1:n.*15_*40del
XR_001740207.2:n.2413_2438del
XR_001740208.2:n.2266_2291del
XR_001740209.2:n.2019_2044del
XR_001740210.1:n.2096_2121del
XR_241502.2:n.2123_2148del
XR_241502.3:n.2069_2094del