Canonical Allele Identifier: CA2749799211

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800173_47800177del , CM000664.2:g.47800173_47800177del GRCh38
NC_000002.11:g.48027312_48027316del , CM000664.1:g.48027312_48027316del GRCh37
NC_000002.10:g.47880816_47880820del NCBI36
NG_007111.1:g.22027_22031del , LRG_219:g.22027_22031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.1893_1897del (MSH6) ENSP00000406248.2:p.Tyr631Ter
ENST00000420813.6:c.1893_1897del (MSH6) ENSP00000390382.2:p.Tyr631Ter
ENST00000455383.6:c.1893_1897del (MSH6) ENSP00000397484.2:p.Tyr631Ter
ENST00000700004.2:c.2190_2194del (MSH6) ENSP00000514752.2:p.Tyr730Ter
ENST00000699999.1:n.2274_2278del (MSH6)
ENST00000700000.1:c.1606+584_1606+588del (MSH6) ENSP00000514749.1:n.1606+584_1606+588del
ENST00000700002.1:c.2196_2200del (MSH6) ENSP00000514750.1:p.Tyr732Ter
ENST00000700003.1:c.628-3247_628-3243del (MSH6) ENSP00000514751.1:n.628-3247_628-3243del
ENST00000700004.1:c.1347_1351del (MSH6) ENSP00000514752.1:p.Tyr449Ter
ENST00000234420.11:c.2190_2194del (MSH6) MANE Select ENSP00000234420.5:p.Tyr730Ter
ENST00000540021.6:c.1800_1804del (MSH6) ENSP00000446475.1:p.Tyr600Ter
ENST00000652107.1:c.1893_1897del (MSH6) ENSP00000498629.1:p.Tyr631Ter
ENST00000673637.1:c.1893_1897del (MSH6) ENSP00000501310.1:p.Tyr631Ter
ENST00000234420.9:c.2190_2194del (MSH6) ENSP00000234420.4:p.Tyr730Ter
ENST00000405808.5:c.169+8018_169+8022del (FBXO11) ENSP00000385127.1:n.169+8018_169+8022del
ENST00000434234.5:c.*124+7817_*124+7821del (FBXO11) ENSP00000402692.1:n.*124+7817_*124+7821del
ENST00000445503.5:c.*1537_*1541del (MSH6) ENSP00000405294.1:n.*1537_*1541del
ENST00000538136.1:c.1284_1288del (MSH6) ENSP00000438580.1:p.Tyr428Ter
ENST00000540021.5:c.1800_1804del (MSH6) ENSP00000446475.1:p.Tyr600Ter
ENST00000614496.4:c.1284_1288del (MSH6) ENSP00000477844.1:p.Tyr428Ter
ENST00000616033.4:c.2187_2191del (MSH6) ENSP00000480261.1:p.Tyr729Ter
ENST00000622629.4:c.-907_-903del (MSH6) ENSP00000482078.1:n.-907_-903del
NM_000179.2:c.2190_2194del , LRG_219t1:c.2190_2194del (MSH6) NP_000170.1:p.Tyr730Ter
NM_001281492.1:c.1800_1804del (MSH6) NP_001268421.1:p.Tyr600Ter
NM_001281493.1:c.1284_1288del (MSH6) NP_001268422.1:p.Tyr428Ter
NM_001281494.1:c.1284_1288del (MSH6) NP_001268423.1:p.Tyr428Ter
XM_005264271.1:c.1893_1897del (MSH6) XP_005264328.1:p.Tyr631Ter
XM_011532798.1:c.2007_2011del (MSH6) XP_011531100.1:p.Tyr669Ter
XM_011532799.1:c.1893_1897del (MSH6) XP_011531101.1:p.Tyr631Ter
XM_011532800.1:c.1893_1897del (MSH6) XP_011531102.1:p.Tyr631Ter
XM_024452819.1:c.2190_2194del (MSH6) XP_024308587.1:p.Tyr730Ter
XM_024452820.1:c.2007_2011del (MSH6) XP_024308588.1:p.Tyr669Ter
XM_024452821.1:c.1893_1897del (MSH6) XP_024308589.1:p.Tyr631Ter
XM_024452822.1:c.1284_1288del (MSH6) XP_024308590.1:p.Tyr428Ter
NM_000179.3:c.2190_2194del (MSH6) MANE Select NP_000170.1:p.Tyr730Ter
NM_001281492.2:c.1800_1804del (MSH6) NP_001268421.1:p.Tyr600Ter
NM_001281493.2:c.1284_1288del (MSH6) NP_001268422.1:p.Tyr428Ter
NM_001281494.2:c.1284_1288del (MSH6) NP_001268423.1:p.Tyr428Ter