Canonical Allele Identifier: CA011648

Linked Data

dbSNP Id: rs63750833

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47801138_47801139del , CM000664.2:g.47801138_47801139del GRCh38
NC_000002.11:g.48028277_48028278del , CM000664.1:g.48028277_48028278del GRCh37
NC_000002.10:g.47881781_47881782del NCBI36
NG_007111.1:g.22992_22993del , LRG_219:g.22992_22993del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2858_2859del (MSH6) ENSP00000406248.2:p.Glu953ValfsTer13
ENST00000420813.6:c.2858_2859del (MSH6) ENSP00000390382.2:p.Glu953ValfsTer13
ENST00000455383.6:c.2858_2859del (MSH6) ENSP00000397484.2:p.Glu953ValfsTer13
ENST00000700004.2:c.3155_3156del (MSH6) ENSP00000514752.2:p.Glu1052ValfsTer7
ENST00000699999.1:n.3239_3240del (MSH6)
ENST00000700000.1:c.1606+1549_1606+1550del (MSH6) ENSP00000514749.1:n.1606+1549_1606+1550de...
ENST00000700002.1:c.3161_3162del (MSH6) ENSP00000514750.1:p.Glu1054ValfsTer13
ENST00000700003.1:c.628-2282_628-2281del (MSH6) ENSP00000514751.1:n.628-2282_628-2281del
ENST00000700004.1:c.2312_2313del (MSH6) ENSP00000514752.1:p.Glu771ValfsTer7
ENST00000234420.11:c.3155_3156del (MSH6) MANE Select ENSP00000234420.5:p.Glu1052ValfsTer13
ENST00000540021.6:c.2765_2766del (MSH6) ENSP00000446475.1:p.Glu922ValfsTer13
ENST00000652107.1:c.2858_2859del (MSH6) ENSP00000498629.1:p.Glu953ValfsTer13
ENST00000673637.1:c.2858_2859del (MSH6) ENSP00000501310.1:p.Glu953ValfsTer13
ENST00000234420.9:c.3155_3156del (MSH6) ENSP00000234420.4:p.Glu1052ValfsTer13
ENST00000405808.5:c.169+7058_169+7059del (FBXO11) ENSP00000385127.1:n.169+7058_169+7059del
ENST00000434234.5:c.*124+6857_*124+6858del (FBXO11) ENSP00000402692.1:n.*124+6857_*124+6858de...
ENST00000445503.5:c.*2502_*2503del (MSH6) ENSP00000405294.1:n.*2502_*2503del
ENST00000538136.1:c.2249_2250del (MSH6) ENSP00000438580.1:p.Glu750ValfsTer13
ENST00000540021.5:c.2765_2766del (MSH6) ENSP00000446475.1:p.Glu922ValfsTer13
ENST00000614496.4:c.2249_2250del (MSH6) ENSP00000477844.1:p.Glu750ValfsTer13
ENST00000616033.4:c.3152_3153del (MSH6) ENSP00000480261.1:p.Glu1051ValfsTer7
ENST00000622629.4:c.59_60del (MSH6) ENSP00000482078.1:p.Glu20ValfsTer13
NM_000179.2:c.3155_3156del , LRG_219t1:c.3155_3156del (MSH6) NP_000170.1:p.Glu1052ValfsTer13
NM_001281492.1:c.2765_2766del (MSH6) NP_001268421.1:p.Glu922ValfsTer13
NM_001281493.1:c.2249_2250del (MSH6) NP_001268422.1:p.Glu750ValfsTer13
NM_001281494.1:c.2249_2250del (MSH6) NP_001268423.1:p.Glu750ValfsTer13
XM_005264271.1:c.2858_2859del (MSH6) XP_005264328.1:p.Glu953ValfsTer13
XM_011532798.1:c.2972_2973del (MSH6) XP_011531100.1:p.Glu991ValfsTer13
XM_011532799.1:c.2858_2859del (MSH6) XP_011531101.1:p.Glu953ValfsTer13
XM_011532800.1:c.2858_2859del (MSH6) XP_011531102.1:p.Glu953ValfsTer13
XM_024452819.1:c.3155_3156del (MSH6) XP_024308587.1:p.Glu1052ValfsTer13
XM_024452820.1:c.2972_2973del (MSH6) XP_024308588.1:p.Glu991ValfsTer13
XM_024452821.1:c.2858_2859del (MSH6) XP_024308589.1:p.Glu953ValfsTer13
XM_024452822.1:c.2249_2250del (MSH6) XP_024308590.1:p.Glu750ValfsTer13
NM_000179.3:c.3155_3156del (MSH6) MANE Select NP_000170.1:p.Glu1052ValfsTer13
NM_001281492.2:c.2765_2766del (MSH6) NP_001268421.1:p.Glu922ValfsTer13
NM_001281493.2:c.2249_2250del (MSH6) NP_001268422.1:p.Glu750ValfsTer13
NM_001281494.2:c.2249_2250del (MSH6) NP_001268423.1:p.Glu750ValfsTer13