Canonical Allele Identifier: CA2580067240

Linked Data

ClinVar Variation Id: 1732966
ClinVar RCV Id: RCV002460297

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805650del , CM000664.2:g.47805650del GRCh38
NC_000002.11:g.48032789del , CM000664.1:g.48032789del GRCh37
NC_000002.10:g.47886293del NCBI36
NG_007111.1:g.27504del , LRG_219:g.27504del
NG_008397.1:g.105028del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3292del (MSH6) ENSP00000406248.2:p.Thr1098LeufsTer19
ENST00000420813.6:c.3292del (MSH6) ENSP00000390382.2:p.Thr1098LeufsTer19
ENST00000455383.6:c.3292del (MSH6) ENSP00000397484.2:p.Thr1098LeufsTer19
ENST00000700004.2:c.3205del (MSH6) ENSP00000514752.2:p.Thr1069LeufsTer19
ENST00000699999.1:n.4263del (MSH6)
ENST00000700000.1:c.2023del (MSH6) ENSP00000514749.1:p.Thr675LeufsTer19
ENST00000700002.1:c.3595del (MSH6) ENSP00000514750.1:p.Thr1199LeufsTer19
ENST00000700003.1:c.1044del (MSH6) ENSP00000514751.1:n.1044del
ENST00000700004.1:c.2362del (MSH6) ENSP00000514752.1:p.Thr788LeufsTer19
ENST00000700005.1:n.2440del (MSH6)
ENST00000700006.1:n.4251del (MSH6)
ENST00000700007.1:n.2184del (MSH6)
ENST00000700008.1:n.1758del (MSH6)
ENST00000700009.1:n.1757del (MSH6)
ENST00000700010.1:n.998del (MSH6)
ENST00000700011.1:n.2883del (MSH6)
ENST00000234420.11:c.3589del (MSH6) MANE Select ENSP00000234420.5:p.Thr1197LeufsTer19
ENST00000540021.6:c.3199del (MSH6) ENSP00000446475.1:p.Thr1067LeufsTer19
ENST00000652107.1:c.3292del (MSH6) ENSP00000498629.1:p.Thr1098LeufsTer19
ENST00000673637.1:c.3292del (MSH6) ENSP00000501310.1:p.Thr1098LeufsTer19
ENST00000234420.9:c.3589del (MSH6) ENSP00000234420.4:p.Thr1197LeufsTer19
ENST00000405808.5:c.169+2547del (FBXO11) ENSP00000385127.1:n.169+2547del
ENST00000434234.5:c.*124+2346del (FBXO11) ENSP00000402692.1:n.*124+2346del
ENST00000445503.5:c.*2936del (MSH6) ENSP00000405294.1:n.*2936del
ENST00000538136.1:c.2683del (MSH6) ENSP00000438580.1:p.Thr895LeufsTer19
ENST00000540021.5:c.3199del (MSH6) ENSP00000446475.1:p.Thr1067LeufsTer19
ENST00000614496.4:c.2683del (MSH6) ENSP00000477844.1:p.Thr895LeufsTer19
ENST00000622629.4:c.493del (MSH6) ENSP00000482078.1:p.Thr165LeufsTer19
NM_000179.2:c.3589del , LRG_219t1:c.3589del (MSH6) NP_000170.1:p.Thr1197LeufsTer19
NM_001281492.1:c.3199del (MSH6) NP_001268421.1:p.Thr1067LeufsTer19
NM_001281493.1:c.2683del (MSH6) NP_001268422.1:p.Thr895LeufsTer19
NM_001281494.1:c.2683del (MSH6) NP_001268423.1:p.Thr895LeufsTer19
XM_005264271.1:c.3292del (MSH6) XP_005264328.1:p.Thr1098LeufsTer19
XM_011532798.1:c.3406del (MSH6) XP_011531100.1:p.Thr1136LeufsTer19
XM_011532799.1:c.3292del (MSH6) XP_011531101.1:p.Thr1098LeufsTer19
XM_011532800.1:c.3292del (MSH6) XP_011531102.1:p.Thr1098LeufsTer19
XM_024452819.1:c.3589del (MSH6) XP_024308587.1:p.Thr1197LeufsTer19
XM_024452820.1:c.3406del (MSH6) XP_024308588.1:p.Thr1136LeufsTer19
XM_024452821.1:c.3292del (MSH6) XP_024308589.1:p.Thr1098LeufsTer19
XM_024452822.1:c.2683del (MSH6) XP_024308590.1:p.Thr895LeufsTer19
NM_000179.3:c.3589del (MSH6) MANE Select NP_000170.1:p.Thr1197LeufsTer19
NM_001281492.2:c.3199del (MSH6) NP_001268421.1:p.Thr1067LeufsTer19
NM_001281493.2:c.2683del (MSH6) NP_001268422.1:p.Thr895LeufsTer19
NM_001281494.2:c.2683del (MSH6) NP_001268423.1:p.Thr895LeufsTer19