Canonical Allele Identifier: CA2573134788
Community Standard Title: NM_000179.3(MSH6):c.3856_3859del (p.Leu1286IlefsTer?)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806506_47806509del , CM000664.2:g.47806506_47806509del GRCh38
NC_000002.11:g.48033645_48033648del , CM000664.1:g.48033645_48033648del GRCh37
NC_000002.10:g.47887149_47887152del NCBI36
NG_007111.1:g.28360_28363del , LRG_219:g.28360_28363del
NG_008397.1:g.104167_104170del

Transcript Alleles

HGVS Amino-acid Change
NM_000179.3:c.3856_3859del (MSH6) MANE Select NP_000170.1:p.Leu1286IlefsTer?
ENST00000234420.11:c.3856_3859del (MSH6) MANE Select ENSP00000234420.5:p.Leu1286IlefsTer?
NM_000179.2:c.3856_3859del , LRG_219t1:c.3856_3859del (MSH6) NP_000170.1:p.Leu1286IlefsTer?
NM_001281492.1:c.3466_3469del (MSH6) NP_001268421.1:p.Leu1156IlefsTer?
NM_001281492.2:c.3466_3469del (MSH6) NP_001268421.1:p.Leu1156IlefsTer?
NM_001281493.1:c.2950_2953del (MSH6) NP_001268422.1:p.Leu984IlefsTer?
NM_001281493.2:c.2950_2953del (MSH6) NP_001268422.1:p.Leu984IlefsTer?
NM_001281494.1:c.2950_2953del (MSH6) NP_001268423.1:p.Leu984IlefsTer?
NM_001281494.2:c.2950_2953del (MSH6) NP_001268423.1:p.Leu984IlefsTer?
ENST00000234420.9:c.3856_3859del (MSH6) ENSP00000234420.4:p.Leu1286IlefsTer?
ENST00000405808.5:c.169+1686_169+1689del (FBXO11) ENSP00000385127.1:n.169+1686_169+1689del
ENST00000411819.2:c.3559_3562del (MSH6) ENSP00000406248.2:p.Leu1187IlefsTer?
ENST00000420813.6:c.3559_3562del (MSH6) ENSP00000390382.2:p.Leu1187IlefsTer?
ENST00000434234.5:c.*124+1485_*124+1488del (FBXO11) ENSP00000402692.1:n.*124+1485_*124+1488del
ENST00000445503.5:c.*3203_*3206del (MSH6) ENSP00000405294.1:n.*3203_*3206del
ENST00000455383.6:c.3559_3562del (MSH6) ENSP00000397484.2:p.Leu1187IlefsTer?
ENST00000538136.1:c.2950_2953del (MSH6) ENSP00000438580.1:p.Leu984IlefsTer?
ENST00000540021.5:c.3466_3469del (MSH6) ENSP00000446475.1:p.Leu1156IlefsTer?
ENST00000540021.6:c.3466_3469del (MSH6) ENSP00000446475.1:p.Leu1156IlefsTer?
ENST00000614496.4:c.2950_2953del (MSH6) ENSP00000477844.1:p.Leu984IlefsTer?
ENST00000622629.4:c.757_760del (MSH6) ENSP00000482078.1:p.Leu253IlefsTer?
ENST00000652107.1:c.3559_3562del (MSH6) ENSP00000498629.1:p.Leu1187IlefsTer?
ENST00000673637.1:c.3559_3562del (MSH6) ENSP00000501310.1:p.Leu1187IlefsTer?
ENST00000682451.1:n.4239_4242del (FBXO11)
ENST00000684712.1:n.4501_4504del (FBXO11)
ENST00000699999.1:n.4530_4533del (MSH6)
ENST00000700000.1:c.2290_2293del (MSH6) ENSP00000514749.1:p.Leu764IlefsTer?
ENST00000700002.1:c.3862_3865del (MSH6) ENSP00000514750.1:p.Leu1288IlefsTer?
ENST00000700003.1:c.1311_1314del (MSH6) ENSP00000514751.1:n.1311_1314del
ENST00000700004.1:c.2629_2632del (MSH6) ENSP00000514752.1:p.Leu877IlefsTer?
ENST00000700004.2:c.3472_3475del (MSH6) ENSP00000514752.2:p.Leu1158IlefsTer?
ENST00000700005.1:n.2707_2710del (MSH6)
ENST00000700006.1:n.5014_5017del (MSH6)
ENST00000700007.1:n.2451_2454del (MSH6)
ENST00000700008.1:n.2118_2121del (MSH6)
ENST00000700009.1:n.2520_2523del (MSH6)
ENST00000700010.1:n.1265_1268del (MSH6)
ENST00000700011.1:n.3150_3153del (MSH6)
XM_005264271.1:c.3559_3562del (MSH6) XP_005264328.1:p.Leu1187IlefsTer?
XM_011532798.1:c.3673_3676del (MSH6) XP_011531100.1:p.Leu1225IlefsTer?
XM_011532799.1:c.3559_3562del (MSH6) XP_011531101.1:p.Leu1187IlefsTer?
XM_011532800.1:c.3559_3562del (MSH6) XP_011531102.1:p.Leu1187IlefsTer?
XM_024452819.1:c.3949_3952del (MSH6) XP_024308587.1:p.Leu1317IlefsTer?
XM_024452820.1:c.3766_3769del (MSH6) XP_024308588.1:p.Leu1256IlefsTer?
XM_024452821.1:c.3652_3655del (MSH6) XP_024308589.1:p.Leu1218IlefsTer?
XM_024452822.1:c.3043_3046del (MSH6) XP_024308590.1:p.Leu1015IlefsTer?