Canonical Allele Identifier: CA2496048063

Linked Data

dbSNP Id: rs1669245281

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798672_47798673insGAGATGACATCTAACT , CM000664.2:g.47798672_47798673insGAGATGACATCTAACT GRCh38
NC_000002.11:g.48025811_48025812insGAGATGACATCTAACT , CM000664.1:g.48025811_48025812insGAGATGACATCTAACT GRCh37
NC_000002.10:g.47879315_47879316insGAGATGACATCTAACT NCBI36
NG_007111.1:g.20526_20527insGAGATGACATCTAACT , LRG_219:g.20526_20527insGAGATGACATCTAACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.392_393insGAGATGACATCTAACT (MSH6) ENSP00000406248.2:p.Val132ArgfsTer2
ENST00000420813.6:c.392_393insGAGATGACATCTAACT (MSH6) ENSP00000390382.2:p.Val132ArgfsTer2
ENST00000455383.6:c.392_393insGAGATGACATCTAACT (MSH6) ENSP00000397484.2:p.Val132ArgfsTer2
ENST00000700004.2:c.689_690insGAGATGACATCTAACT (MSH6) ENSP00000514752.2:p.Val231ArgfsTer2
ENST00000699999.1:n.773_774insGAGATGACATCTAACT (MSH6)
ENST00000700000.1:c.689_690insGAGATGACATCTAACT (MSH6) ENSP00000514749.1:p.Val231ArgfsTer2
ENST00000700002.1:c.695_696insGAGATGACATCTAACT (MSH6) ENSP00000514750.1:p.Val233ArgfsTer2
ENST00000700003.1:c.627+2609_627+2610insGAGATGACATCTAACT (MSH6) ENSP00000514751.1:n.627+2609_627+2610insGAGATGACATCTAACT
ENST00000234420.11:c.689_690insGAGATGACATCTAACT (MSH6) MANE Select ENSP00000234420.5:p.Val231ArgfsTer2
ENST00000540021.6:c.299_300insGAGATGACATCTAACT (MSH6) ENSP00000446475.1:p.Val101ArgfsTer2
ENST00000652107.1:c.392_393insGAGATGACATCTAACT (MSH6) ENSP00000498629.1:p.Val132ArgfsTer2
ENST00000673637.1:c.392_393insGAGATGACATCTAACT (MSH6) ENSP00000501310.1:p.Val132ArgfsTer2
ENST00000673922.1:n.411_412insGAGATGACATCTAACT (MSH6)
ENST00000234420.9:c.689_690insGAGATGACATCTAACT (MSH6) ENSP00000234420.4:p.Val231ArgfsTer2
ENST00000405808.5:c.170-9233_170-9232insAGTTAGATGTCATCTC (FBXO11) ENSP00000385127.1:n.170-9233_170-9232insAGTTAGATGTCATCTC
ENST00000411819.1:c.392_393insGAGATGACATCTAACT (MSH6) ENSP00000406248.1:p.Val132ArgfsTer2
ENST00000434234.5:c.*125-9233_*125-9232insAGTTAGATGTCATCTC (FBXO11) ENSP00000402692.1:n.*125-9233_*125-9232insAGTTAGATGTCATCTC
ENST00000445503.5:c.*36_*37insGAGATGACATCTAACT (MSH6) ENSP00000405294.1:n.*36_*37insGAGATGACATCTAACT
ENST00000456246.1:c.*177_*178insGAGATGACATCTAACT (MSH6) ENSP00000410570.1:n.*177_*178insGAGATGACATCTAACT
ENST00000538136.1:c.-218_-217insGAGATGACATCTAACT (MSH6) ENSP00000438580.1:n.-218_-217insGAGATGACATCTAACT
ENST00000540021.5:c.299_300insGAGATGACATCTAACT (MSH6) ENSP00000446475.1:p.Val101ArgfsTer2
ENST00000614496.4:c.-218_-217insGAGATGACATCTAACT (MSH6) ENSP00000477844.1:n.-218_-217insGAGATGACATCTAACT
ENST00000616033.4:c.686_687insGAGATGACATCTAACT (MSH6) ENSP00000480261.1:p.Val230ArgfsTer2
ENST00000622629.4:c.-2408_-2407insGAGATGACATCTAACT (MSH6) ENSP00000482078.1:n.-2408_-2407insGAGATGACATCTAACT
NM_000179.2:c.689_690insGAGATGACATCTAACT , LRG_219t1:c.689_690insGAGATGACATCTAACT (MSH6) NP_000170.1:p.Val231ArgfsTer2
NM_001281492.1:c.299_300insGAGATGACATCTAACT (MSH6) NP_001268421.1:p.Val101ArgfsTer2
NM_001281493.1:c.-218_-217insGAGATGACATCTAACT (MSH6) NP_001268422.1:n.-218_-217insGAGATGACATCTAACT
NM_001281494.1:c.-218_-217insGAGATGACATCTAACT (MSH6) NP_001268423.1:n.-218_-217insGAGATGACATCTAACT
XM_005264271.1:c.392_393insGAGATGACATCTAACT (MSH6) XP_005264328.1:p.Val132ArgfsTer2
XM_011532798.1:c.506_507insGAGATGACATCTAACT (MSH6) XP_011531100.1:p.Val170ArgfsTer2
XM_011532799.1:c.392_393insGAGATGACATCTAACT (MSH6) XP_011531101.1:p.Val132ArgfsTer2
XM_011532800.1:c.392_393insGAGATGACATCTAACT (MSH6) XP_011531102.1:p.Val132ArgfsTer2
XM_024452819.1:c.689_690insGAGATGACATCTAACT (MSH6) XP_024308587.1:p.Val231ArgfsTer2
XM_024452820.1:c.506_507insGAGATGACATCTAACT (MSH6) XP_024308588.1:p.Val170ArgfsTer2
XM_024452821.1:c.392_393insGAGATGACATCTAACT (MSH6) XP_024308589.1:p.Val132ArgfsTer2
XM_024452822.1:c.-218_-217insGAGATGACATCTAACT (MSH6) XP_024308590.1:n.-218_-217insGAGATGACATCTAACT
NM_000179.3:c.689_690insGAGATGACATCTAACT (MSH6) MANE Select NP_000170.1:p.Val231ArgfsTer2
NM_001281492.2:c.299_300insGAGATGACATCTAACT (MSH6) NP_001268421.1:p.Val101ArgfsTer2
NM_001281493.2:c.-218_-217insGAGATGACATCTAACT (MSH6) NP_001268422.1:n.-218_-217insGAGATGACATCTAACT
NM_001281494.2:c.-218_-217insGAGATGACATCTAACT (MSH6) NP_001268423.1:n.-218_-217insGAGATGACATCTAACT