Canonical Allele Identifier: CA88708554

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183045109del , CM000665.2:g.183045109del	GRCh38
NC_000003.11:g.182762897del , CM000665.1:g.182762897del	GRCh37
NC_000003.10:g.184245591del	NCBI36
NG_008100.1:g.59485del

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1083+320del MANE Select	NP_064551.3:n.1083+320del
ENST00000265594.9:c.1083+320del MANE Select	ENSP00000265594.4:n.1083+320del
NM_001293273.1:c.732+320del	NP_001280202.1:n.732+320del
NM_001293273.2:c.732+320del	NP_001280202.1:n.732+320del
NM_001363880.1:c.756+320del	NP_001350809.1:n.756+320del
NM_020166.4:c.1083+320del	NP_064551.3:n.1083+320del
NR_120639.1:n.997+320del
NR_120639.2:n.906+320del
NR_120640.1:n.1750+320del
NR_120640.2:n.1750+320del
ENST00000265594.8:c.1083+320del	ENSP00000265594.4:n.1083+320del
ENST00000476176.5:c.942+320del	ENSP00000420433.1:n.942+320del
ENST00000492597.5:c.756+320del	ENSP00000419898.1:n.756+320del
ENST00000495767.5:c.*664+320del	ENSP00000419658.1:n.*664+320del
ENST00000497830.5:c.*680+320del	ENSP00000420088.1:n.*680+320del
ENST00000497959.5:c.969+320del	ENSP00000420648.1:n.969+320del
ENST00000539926.5:c.633+320del	ENSP00000441253.2:n.633+320del
ENST00000610757.4:c.633+320del	ENSP00000480435.1:n.633+320del
ENST00000629669.2:c.969+320del	ENSP00000486824.1:n.969+320del
XM_006713702.1:c.756+320del	XP_006713765.1:n.756+320del
XM_011512992.1:c.969+320del	XP_011511294.1:n.969+320del
XM_011512992.2:c.969+320del	XP_011511294.1:n.969+320del
XM_011512993.1:c.1083+320del	XP_011511295.1:n.1083+320del
XR_001740207.2:n.1206+320del
XR_001740208.2:n.1206+320del
XR_001740209.2:n.1176+320del
XR_001740210.1:n.1036+320del
XR_002959553.1:n.1206+320del
XR_002959554.1:n.1206+320del
XR_241502.2:n.1230+320del
XR_241502.3:n.1176+320del
XR_924159.1:n.1230+320del