Canonical Allele Identifier: CA658655740

Linked Data

ClinVar Variation Id: 455287
dbSNP Id: rs1553333175

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806359_47806363del , CM000664.2:g.47806359_47806363del GRCh38
NC_000002.11:g.48033498_48033502del , CM000664.1:g.48033498_48033502del GRCh37
NC_000002.10:g.47887002_47887006del NCBI36
NG_007111.1:g.28213_28217del , LRG_219:g.28213_28217del
NG_008397.1:g.104317_104321del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3504+1_3504+5del (MSH6)
ENST00000420813.6:c.3504+1_3504+5del (MSH6)
ENST00000455383.6:c.3504+1_3504+5del (MSH6)
ENST00000700004.2:c.3417+1_3417+5del (MSH6)
ENST00000699999.1:n.4475+1_4475+5del (MSH6)
ENST00000700000.1:c.2235+1_2235+5del (MSH6)
ENST00000700002.1:c.3807+1_3807+5del (MSH6)
ENST00000700003.1:c.1256+1_1256+5del (MSH6)
ENST00000700004.1:c.2574+1_2574+5del (MSH6)
ENST00000700005.1:n.2652+1_2652+5del (MSH6)
ENST00000700006.1:n.4959+1_4959+5del (MSH6)
ENST00000700007.1:n.2396+1_2396+5del (MSH6)
ENST00000700008.1:n.1971_1975del (MSH6)
ENST00000700009.1:n.2465+1_2465+5del (MSH6)
ENST00000700010.1:n.1210+1_1210+5del (MSH6)
ENST00000700011.1:n.3095+1_3095+5del (MSH6)
ENST00000682451.1:n.4389_4393del (FBXO11)
ENST00000684712.1:n.4651_4655del (FBXO11)
ENST00000234420.11:c.3801+1_3801+5del (MSH6)
ENST00000540021.6:c.3411+1_3411+5del (MSH6)
ENST00000652107.1:c.3504+1_3504+5del (MSH6)
ENST00000673637.1:c.3504+1_3504+5del (MSH6)
ENST00000234420.9:c.3801+1_3801+5del (MSH6)
ENST00000405808.5:c.169+1836_169+1840del (FBXO11) ENSP00000385127.1:n.169+1836_169+1840del
ENST00000434234.5:c.*124+1635_*124+1639del (FBXO11) ENSP00000402692.1:n.*124+1635_*124+1639de...
ENST00000445503.5:c.*3148+1_*3148+5del (MSH6)
ENST00000538136.1:c.2895+1_2895+5del (MSH6)
ENST00000540021.5:c.3411+1_3411+5del (MSH6)
ENST00000614496.4:c.2895+1_2895+5del (MSH6)
ENST00000622629.4:c.702+1_702+5del (MSH6)
NM_000179.2:c.3801+1_3801+5del , LRG_219t1:c.3801+1_3801+5del (MSH6)
NM_001281492.1:c.3411+1_3411+5del (MSH6)
NM_001281493.1:c.2895+1_2895+5del (MSH6)
NM_001281494.1:c.2895+1_2895+5del (MSH6)
XM_005264271.1:c.3504+1_3504+5del (MSH6)
XM_011532798.1:c.3618+1_3618+5del (MSH6)
XM_011532799.1:c.3504+1_3504+5del (MSH6)
XM_011532800.1:c.3504+1_3504+5del (MSH6)
XM_024452819.1:c.3802_3806del (MSH6) XP_024308587.1:p.Val1268CysfsTer12
XM_024452820.1:c.3619_3623del (MSH6) XP_024308588.1:p.Val1207CysfsTer12
XM_024452821.1:c.3505_3509del (MSH6) XP_024308589.1:p.Val1169CysfsTer12
XM_024452822.1:c.2896_2900del (MSH6) XP_024308590.1:p.Val966CysfsTer12
NM_000179.3:c.3801+1_3801+5del (MSH6)
NM_001281492.2:c.3411+1_3411+5del (MSH6)
NM_001281493.2:c.2895+1_2895+5del (MSH6)
NM_001281494.2:c.2895+1_2895+5del (MSH6)