Canonical Allele Identifier: CA2579753930

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806797_47806807dup , CM000664.2:g.47806797_47806807dup GRCh38
NC_000002.11:g.48033936_48033946dup , CM000664.1:g.48033936_48033946dup GRCh37
NC_000002.10:g.47887440_47887450dup NCBI36
NG_007111.1:g.28651_28661dup , LRG_219:g.28651_28661dup
NG_008397.1:g.103869_103879dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3723_3733dup (MSH6) ENSP00000406248.2:p.Thr1245MetfsTer6
ENST00000420813.6:c.3723_3733dup (MSH6) ENSP00000390382.2:p.Thr1245MetfsTer6
ENST00000455383.6:c.3723_3733dup (MSH6) ENSP00000397484.2:p.Thr1245MetfsTer6
ENST00000700004.2:c.3636_3646dup (MSH6) ENSP00000514752.2:p.Thr1216MetfsTer6
ENST00000699999.1:n.4694_4704dup (MSH6)
ENST00000700000.1:c.2454_2464dup (MSH6) ENSP00000514749.1:p.Thr822MetfsTer6
ENST00000700002.1:c.4026_4036dup (MSH6) ENSP00000514750.1:p.Thr1346MetfsTer6
ENST00000700003.1:c.1475_1485dup (MSH6) ENSP00000514751.1:n.1475_1485dup
ENST00000700004.1:c.2793_2803dup (MSH6) ENSP00000514752.1:p.Thr935MetfsTer6
ENST00000700005.1:n.2998_3008dup (MSH6)
ENST00000700007.1:n.2615_2625dup (MSH6)
ENST00000700008.1:n.2282_2292dup (MSH6)
ENST00000700009.1:n.2684_2694dup (MSH6)
ENST00000700010.1:n.1429_1439dup (MSH6)
ENST00000700011.1:n.3314_3324dup (MSH6)
ENST00000682451.1:n.3941_3951dup (FBXO11)
ENST00000684712.1:n.4203_4213dup (FBXO11)
ENST00000234420.11:c.4020_4030dup (MSH6) MANE Select ENSP00000234420.5:p.Thr1344MetfsTer6
ENST00000540021.6:c.3630_3640dup (MSH6) ENSP00000446475.1:p.Thr1214MetfsTer6
ENST00000652107.1:c.3723_3733dup (MSH6) ENSP00000498629.1:p.Thr1245MetfsTer6
ENST00000673637.1:c.3723_3733dup (MSH6) ENSP00000501310.1:p.Thr1245MetfsTer6
ENST00000234420.9:c.4020_4030dup (MSH6) ENSP00000234420.4:p.Thr1344MetfsTer6
ENST00000405808.5:c.169+1388_169+1398dup (FBXO11) ENSP00000385127.1:n.169+1388_169+1398dup
ENST00000434234.5:c.*124+1187_*124+1197dup (FBXO11) ENSP00000402692.1:n.*124+1187_*124+1197dup
ENST00000445503.5:c.*3367_*3377dup (MSH6) ENSP00000405294.1:n.*3367_*3377dup
ENST00000465204.5:n.3103_3113dup (FBXO11)
ENST00000538136.1:c.3114_3124dup (MSH6) ENSP00000438580.1:p.Thr1042MetfsTer6
ENST00000540021.5:c.3630_3640dup (MSH6) ENSP00000446475.1:p.Thr1214MetfsTer6
ENST00000614496.4:c.3114_3124dup (MSH6) ENSP00000477844.1:p.Thr1042MetfsTer6
ENST00000622629.4:c.921_931dup (MSH6) ENSP00000482078.1:p.Thr311MetfsTer6
NM_000179.2:c.4020_4030dup , LRG_219t1:c.4020_4030dup (MSH6) NP_000170.1:p.Thr1344MetfsTer6
NM_001281492.1:c.3630_3640dup (MSH6) NP_001268421.1:p.Thr1214MetfsTer6
NM_001281493.1:c.3114_3124dup (MSH6) NP_001268422.1:p.Thr1042MetfsTer6
NM_001281494.1:c.3114_3124dup (MSH6) NP_001268423.1:p.Thr1042MetfsTer6
XM_005264271.1:c.3723_3733dup (MSH6) XP_005264328.1:p.Thr1245MetfsTer6
XM_011532798.1:c.3837_3847dup (MSH6) XP_011531100.1:p.Thr1283MetfsTer6
XM_011532799.1:c.3723_3733dup (MSH6) XP_011531101.1:p.Thr1245MetfsTer6
XM_011532800.1:c.3723_3733dup (MSH6) XP_011531102.1:p.Thr1245MetfsTer6
XM_024452819.1:c.4113_4123dup (MSH6) XP_024308587.1:p.Thr1375MetfsTer6
XM_024452820.1:c.3930_3940dup (MSH6) XP_024308588.1:p.Thr1314MetfsTer6
XM_024452821.1:c.3816_3826dup (MSH6) XP_024308589.1:p.Thr1276MetfsTer6
XM_024452822.1:c.3207_3217dup (MSH6) XP_024308590.1:p.Thr1073MetfsTer6
NM_000179.3:c.4020_4030dup (MSH6) MANE Select NP_000170.1:p.Thr1344MetfsTer6
NM_001281492.2:c.3630_3640dup (MSH6) NP_001268421.1:p.Thr1214MetfsTer6
NM_001281493.2:c.3114_3124dup (MSH6) NP_001268422.1:p.Thr1042MetfsTer6
NM_001281494.2:c.3114_3124dup (MSH6) NP_001268423.1:p.Thr1042MetfsTer6