Canonical Allele Identifier: CA119999988
Community Standard Title: NM_022132.5(MCCC2):c.1149+179_1149+182del
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71644074_71644077del , CM000667.2:g.71644074_71644077del GRCh38
NC_000005.9:g.70939901_70939904del , CM000667.1:g.70939901_70939904del GRCh37
NC_000005.8:g.70975657_70975660del NCBI36
NG_008882.1:g.61787_61790del

Transcript Alleles

HGVS Amino-acid Change
NM_022132.5:c.1149+179_1149+182del MANE Select NP_071415.1:n.1149+179_1149+182del
ENST00000340941.11:c.1149+179_1149+182del MANE Select ENSP00000343657.6:n.1149+179_1149+182del
NM_001363147.1:c.1035+179_1035+182del NP_001350076.1:n.1035+179_1035+182del
NM_022132.4:c.1149+179_1149+182del NP_071415.1:n.1149+179_1149+182del
ENST00000340941.10:c.1149+179_1149+182del ENSP00000343657.6:n.1149+179_1149+182del
ENST00000505435.4:n.2757+179_2757+182del
ENST00000505787.8:n.2980+179_2980+182del
ENST00000509539.2:c.465+179_465+182del ENSP00000425474.2:n.465+179_465+182del
ENST00000509539.3:c.475+179_475+182del ENSP00000425474.3:n.475+179_475+182del
ENST00000512218.6:c.*101+179_*101+182del ENSP00000423202.2:n.*101+179_*101+182del
ENST00000681968.1:c.642+179_642+182del ENSP00000508143.1:n.642+179_642+182del
ENST00000681991.1:n.1233+179_1233+182del
ENST00000682045.1:c.1005+179_1005+182del ENSP00000507329.1:n.1005+179_1005+182del
ENST00000682214.1:c.756+179_756+182del ENSP00000507336.1:n.756+179_756+182del
ENST00000682231.1:n.167+179_167+182del
ENST00000682438.1:n.1012_1015del
ENST00000682499.1:n.1970+179_1970+182del
ENST00000682541.1:c.*47+179_*47+182del ENSP00000507673.1:n.*47+179_*47+182del
ENST00000682640.1:n.853+179_853+182del
ENST00000682667.1:n.1314+179_1314+182del
ENST00000682687.1:c.*101+179_*101+182del ENSP00000507945.1:n.*101+179_*101+182del
ENST00000682727.1:c.1140+179_1140+182del ENSP00000507393.1:n.1140+179_1140+182del
ENST00000682876.1:c.1278+179_1278+182del ENSP00000508389.1:n.1278+179_1278+182del
ENST00000683098.1:c.804-2137_804-2134del ENSP00000507670.1:n.804-2137_804-2134del
ENST00000683258.1:c.*870+179_*870+182del ENSP00000507448.1:n.*870+179_*870+182del
ENST00000683339.1:c.933+179_933+182del ENSP00000507758.1:n.933+179_933+182del
ENST00000683403.1:c.1059+179_1059+182del ENSP00000507896.1:n.1059+179_1059+182del
ENST00000683429.1:c.756+179_756+182del ENSP00000507697.1:n.756+179_756+182del
ENST00000683789.1:c.1035+179_1035+182del ENSP00000507012.1:n.1035+179_1035+182del
ENST00000683847.1:n.1319+179_1319+182del
ENST00000683882.1:c.*90+179_*90+182del ENSP00000506735.1:n.*90+179_*90+182del
ENST00000684024.1:c.*820+179_*820+182del ENSP00000507175.1:n.*820+179_*820+182del
ENST00000684132.1:c.77+179_77+182del
ENST00000684254.1:c.*875+179_*875+182del ENSP00000508001.1:n.*875+179_*875+182del
ENST00000684310.1:c.315+179_315+182del ENSP00000507550.1:n.315+179_315+182del
ENST00000684474.1:n.785+179_785+182del
ENST00000684530.1:c.334+2999_334+3002del ENSP00000507439.1:n.334+2999_334+3002del
ENST00000684686.1:n.768+179_768+182del
XM_005248567.1:c.1035+179_1035+182del XP_005248624.1:n.1035+179_1035+182del
XR_001742172.1:n.1237+179_1237+182del