Canonical Allele Identifier: CA2695200521

Linked Data

ClinVar Variation Id: 2673668
ClinVar RCV Id: RCV003450305

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806596_47806603del , CM000664.2:g.47806596_47806603del GRCh38
NC_000002.11:g.48033735_48033742del , CM000664.1:g.48033735_48033742del GRCh37
NC_000002.10:g.47887239_47887246del NCBI36
NG_007111.1:g.28450_28457del , LRG_219:g.28450_28457del
NG_008397.1:g.104075_104082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3649_3656del (MSH6) ENSP00000406248.2:p.Gly1217LysfsTer6
ENST00000420813.6:c.3649_3656del (MSH6) ENSP00000390382.2:p.Gly1217LysfsTer6
ENST00000455383.6:c.3649_3656del (MSH6) ENSP00000397484.2:p.Gly1217LysfsTer6
ENST00000700004.2:c.3562_3569del (MSH6) ENSP00000514752.2:p.Gly1188LysfsTer6
ENST00000699999.1:n.4620_4627del (MSH6)
ENST00000700000.1:c.2380_2387del (MSH6) ENSP00000514749.1:p.Gly794LysfsTer6
ENST00000700002.1:c.3952_3959del (MSH6) ENSP00000514750.1:p.Gly1318LysfsTer6
ENST00000700003.1:c.1401_1408del (MSH6) ENSP00000514751.1:n.1401_1408del
ENST00000700004.1:c.2719_2726del (MSH6) ENSP00000514752.1:p.Gly907LysfsTer6
ENST00000700005.1:n.2797_2804del (MSH6)
ENST00000700006.1:n.5104_5111del (MSH6)
ENST00000700007.1:n.2541_2548del (MSH6)
ENST00000700008.1:n.2208_2215del (MSH6)
ENST00000700009.1:n.2610_2617del (MSH6)
ENST00000700010.1:n.1355_1362del (MSH6)
ENST00000700011.1:n.3240_3247del (MSH6)
ENST00000682451.1:n.4147_4154del (FBXO11)
ENST00000684712.1:n.4409_4416del (FBXO11)
ENST00000234420.11:c.3946_3953del (MSH6) MANE Select ENSP00000234420.5:p.Gly1316LysfsTer6
ENST00000540021.6:c.3556_3563del (MSH6) ENSP00000446475.1:p.Gly1186LysfsTer6
ENST00000652107.1:c.3649_3656del (MSH6) ENSP00000498629.1:p.Gly1217LysfsTer6
ENST00000673637.1:c.3649_3656del (MSH6) ENSP00000501310.1:p.Gly1217LysfsTer6
ENST00000234420.9:c.3946_3953del (MSH6) ENSP00000234420.4:p.Gly1316LysfsTer6
ENST00000405808.5:c.169+1594_169+1601del (FBXO11) ENSP00000385127.1:n.169+1594_169+1601del
ENST00000434234.5:c.*124+1393_*124+1400del (FBXO11) ENSP00000402692.1:n.*124+1393_*124+1400del
ENST00000445503.5:c.*3293_*3300del (MSH6) ENSP00000405294.1:n.*3293_*3300del
ENST00000538136.1:c.3040_3047del (MSH6) ENSP00000438580.1:p.Gly1014LysfsTer6
ENST00000540021.5:c.3556_3563del (MSH6) ENSP00000446475.1:p.Gly1186LysfsTer6
ENST00000614496.4:c.3040_3047del (MSH6) ENSP00000477844.1:p.Gly1014LysfsTer6
ENST00000622629.4:c.847_854del (MSH6) ENSP00000482078.1:p.Gly283LysfsTer6
NM_000179.2:c.3946_3953del , LRG_219t1:c.3946_3953del (MSH6) NP_000170.1:p.Gly1316LysfsTer6
NM_001281492.1:c.3556_3563del (MSH6) NP_001268421.1:p.Gly1186LysfsTer6
NM_001281493.1:c.3040_3047del (MSH6) NP_001268422.1:p.Gly1014LysfsTer6
NM_001281494.1:c.3040_3047del (MSH6) NP_001268423.1:p.Gly1014LysfsTer6
XM_005264271.1:c.3649_3656del (MSH6) XP_005264328.1:p.Gly1217LysfsTer6
XM_011532798.1:c.3763_3770del (MSH6) XP_011531100.1:p.Gly1255LysfsTer6
XM_011532799.1:c.3649_3656del (MSH6) XP_011531101.1:p.Gly1217LysfsTer6
XM_011532800.1:c.3649_3656del (MSH6) XP_011531102.1:p.Gly1217LysfsTer6
XM_024452819.1:c.4039_4046del (MSH6) XP_024308587.1:p.Gly1347LysfsTer6
XM_024452820.1:c.3856_3863del (MSH6) XP_024308588.1:p.Gly1286LysfsTer6
XM_024452821.1:c.3742_3749del (MSH6) XP_024308589.1:p.Gly1248LysfsTer6
XM_024452822.1:c.3133_3140del (MSH6) XP_024308590.1:p.Gly1045LysfsTer6
NM_000179.3:c.3946_3953del (MSH6) MANE Select NP_000170.1:p.Gly1316LysfsTer6
NM_001281492.2:c.3556_3563del (MSH6) NP_001268421.1:p.Gly1186LysfsTer6
NM_001281493.2:c.3040_3047del (MSH6) NP_001268422.1:p.Gly1014LysfsTer6
NM_001281494.2:c.3040_3047del (MSH6) NP_001268423.1:p.Gly1014LysfsTer6