Canonical Allele Identifier: CA16617712

Linked Data

ClinVar Variation Id: 419304
dbSNP Id: rs1064793781

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806499del , CM000664.2:g.47806499del GRCh38
NC_000002.11:g.48033638del , CM000664.1:g.48033638del GRCh37
NC_000002.10:g.47887142del NCBI36
NG_007111.1:g.28353del , LRG_219:g.28353del
NG_008397.1:g.104178del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3552del (MSH6) ENSP00000406248.2:p.Thr1185ArgfsTer?
ENST00000420813.6:c.3552del (MSH6) ENSP00000390382.2:p.Thr1185ArgfsTer?
ENST00000455383.6:c.3552del (MSH6) ENSP00000397484.2:p.Thr1185ArgfsTer?
ENST00000700004.2:c.3465del (MSH6) ENSP00000514752.2:p.Thr1156ArgfsTer?
ENST00000699999.1:n.4523del (MSH6)
ENST00000700000.1:c.2283del (MSH6) ENSP00000514749.1:p.Thr762ArgfsTer?
ENST00000700002.1:c.3855del (MSH6) ENSP00000514750.1:p.Thr1286ArgfsTer?
ENST00000700003.1:c.1304del (MSH6) ENSP00000514751.1:n.1304del
ENST00000700004.1:c.2622del (MSH6) ENSP00000514752.1:p.Thr875ArgfsTer?
ENST00000700005.1:n.2700del (MSH6)
ENST00000700006.1:n.5007del (MSH6)
ENST00000700007.1:n.2444del (MSH6)
ENST00000700008.1:n.2111del (MSH6)
ENST00000700009.1:n.2513del (MSH6)
ENST00000700010.1:n.1258del (MSH6)
ENST00000700011.1:n.3143del (MSH6)
ENST00000682451.1:n.4250del (FBXO11)
ENST00000684712.1:n.4512del (FBXO11)
ENST00000234420.11:c.3849del (MSH6) MANE Select ENSP00000234420.5:p.Thr1284ArgfsTer?
ENST00000540021.6:c.3459del (MSH6) ENSP00000446475.1:p.Thr1154ArgfsTer?
ENST00000652107.1:c.3552del (MSH6) ENSP00000498629.1:p.Thr1185ArgfsTer?
ENST00000673637.1:c.3552del (MSH6) ENSP00000501310.1:p.Thr1185ArgfsTer?
ENST00000234420.9:c.3849del (MSH6) ENSP00000234420.4:p.Thr1284ArgfsTer?
ENST00000405808.5:c.169+1697del (FBXO11) ENSP00000385127.1:n.169+1697del
ENST00000434234.5:c.*124+1496del (FBXO11) ENSP00000402692.1:n.*124+1496del
ENST00000445503.5:c.*3196del (MSH6) ENSP00000405294.1:n.*3196del
ENST00000538136.1:c.2943del (MSH6) ENSP00000438580.1:p.Thr982ArgfsTer?
ENST00000540021.5:c.3459del (MSH6) ENSP00000446475.1:p.Thr1154ArgfsTer?
ENST00000614496.4:c.2943del (MSH6) ENSP00000477844.1:p.Thr982ArgfsTer?
ENST00000622629.4:c.750del (MSH6) ENSP00000482078.1:p.Thr251ArgfsTer?
NM_000179.2:c.3849del , LRG_219t1:c.3849del (MSH6) NP_000170.1:p.Thr1284ArgfsTer?
NM_001281492.1:c.3459del (MSH6) NP_001268421.1:p.Thr1154ArgfsTer?
NM_001281493.1:c.2943del (MSH6) NP_001268422.1:p.Thr982ArgfsTer?
NM_001281494.1:c.2943del (MSH6) NP_001268423.1:p.Thr982ArgfsTer?
XM_005264271.1:c.3552del (MSH6) XP_005264328.1:p.Thr1185ArgfsTer?
XM_011532798.1:c.3666del (MSH6) XP_011531100.1:p.Thr1223ArgfsTer?
XM_011532799.1:c.3552del (MSH6) XP_011531101.1:p.Thr1185ArgfsTer?
XM_011532800.1:c.3552del (MSH6) XP_011531102.1:p.Thr1185ArgfsTer?
XM_024452819.1:c.3942del (MSH6) XP_024308587.1:p.Thr1315ArgfsTer?
XM_024452820.1:c.3759del (MSH6) XP_024308588.1:p.Thr1254ArgfsTer?
XM_024452821.1:c.3645del (MSH6) XP_024308589.1:p.Thr1216ArgfsTer?
XM_024452822.1:c.3036del (MSH6) XP_024308590.1:p.Thr1013ArgfsTer?
NM_000179.3:c.3849del (MSH6) MANE Select NP_000170.1:p.Thr1284ArgfsTer?
NM_001281492.2:c.3459del (MSH6) NP_001268421.1:p.Thr1154ArgfsTer?
NM_001281493.2:c.2943del (MSH6) NP_001268422.1:p.Thr982ArgfsTer?
NM_001281494.2:c.2943del (MSH6) NP_001268423.1:p.Thr982ArgfsTer?