Canonical Allele Identifier: CA2749812366

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806787_47806788del , CM000664.2:g.47806787_47806788del GRCh38
NC_000002.11:g.48033926_48033927del , CM000664.1:g.48033926_48033927del GRCh37
NC_000002.10:g.47887430_47887431del NCBI36
NG_007111.1:g.28641_28642del , LRG_219:g.28641_28642del
NG_008397.1:g.103888_103889del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3713_3714del (MSH6) ENSP00000406248.2:p.Cys1238SerfsTer3
ENST00000420813.6:c.3713_3714del (MSH6) ENSP00000390382.2:p.Cys1238SerfsTer3
ENST00000455383.6:c.3713_3714del (MSH6) ENSP00000397484.2:p.Cys1238SerfsTer3
ENST00000700004.2:c.3626_3627del (MSH6) ENSP00000514752.2:p.Cys1209SerfsTer3
ENST00000699999.1:n.4684_4685del (MSH6)
ENST00000700000.1:c.2444_2445del (MSH6) ENSP00000514749.1:p.Cys815SerfsTer3
ENST00000700002.1:c.4016_4017del (MSH6) ENSP00000514750.1:p.Cys1339SerfsTer3
ENST00000700003.1:c.1465_1466del (MSH6) ENSP00000514751.1:n.1465_1466del
ENST00000700004.1:c.2783_2784del (MSH6) ENSP00000514752.1:p.Cys928SerfsTer3
ENST00000700005.1:n.2988_2989del (MSH6)
ENST00000700007.1:n.2605_2606del (MSH6)
ENST00000700008.1:n.2272_2273del (MSH6)
ENST00000700009.1:n.2674_2675del (MSH6)
ENST00000700010.1:n.1419_1420del (MSH6)
ENST00000700011.1:n.3304_3305del (MSH6)
ENST00000682451.1:n.3960_3961del (FBXO11)
ENST00000684712.1:n.4222_4223del (FBXO11)
ENST00000234420.11:c.4010_4011del (MSH6) MANE Select ENSP00000234420.5:p.Cys1337SerfsTer3
ENST00000540021.6:c.3620_3621del (MSH6) ENSP00000446475.1:p.Cys1207SerfsTer3
ENST00000652107.1:c.3713_3714del (MSH6) ENSP00000498629.1:p.Cys1238SerfsTer3
ENST00000673637.1:c.3713_3714del (MSH6) ENSP00000501310.1:p.Cys1238SerfsTer3
ENST00000234420.9:c.4010_4011del (MSH6) ENSP00000234420.4:p.Cys1337SerfsTer3
ENST00000405808.5:c.169+1407_169+1408del (FBXO11) ENSP00000385127.1:n.169+1407_169+1408del
ENST00000434234.5:c.*124+1206_*124+1207del (FBXO11) ENSP00000402692.1:n.*124+1206_*124+1207del
ENST00000445503.5:c.*3357_*3358del (MSH6) ENSP00000405294.1:n.*3357_*3358del
ENST00000465204.5:n.3122_3123del (FBXO11)
ENST00000538136.1:c.3104_3105del (MSH6) ENSP00000438580.1:p.Cys1035SerfsTer3
ENST00000540021.5:c.3620_3621del (MSH6) ENSP00000446475.1:p.Cys1207SerfsTer3
ENST00000614496.4:c.3104_3105del (MSH6) ENSP00000477844.1:p.Cys1035SerfsTer3
ENST00000622629.4:c.911_912del (MSH6) ENSP00000482078.1:p.Cys304SerfsTer3
NM_000179.2:c.4010_4011del , LRG_219t1:c.4010_4011del (MSH6) NP_000170.1:p.Cys1337SerfsTer3
NM_001281492.1:c.3620_3621del (MSH6) NP_001268421.1:p.Cys1207SerfsTer3
NM_001281493.1:c.3104_3105del (MSH6) NP_001268422.1:p.Cys1035SerfsTer3
NM_001281494.1:c.3104_3105del (MSH6) NP_001268423.1:p.Cys1035SerfsTer3
XM_005264271.1:c.3713_3714del (MSH6) XP_005264328.1:p.Cys1238SerfsTer3
XM_011532798.1:c.3827_3828del (MSH6) XP_011531100.1:p.Cys1276SerfsTer3
XM_011532799.1:c.3713_3714del (MSH6) XP_011531101.1:p.Cys1238SerfsTer3
XM_011532800.1:c.3713_3714del (MSH6) XP_011531102.1:p.Cys1238SerfsTer3
XM_024452819.1:c.4103_4104del (MSH6) XP_024308587.1:p.Cys1368SerfsTer3
XM_024452820.1:c.3920_3921del (MSH6) XP_024308588.1:p.Cys1307SerfsTer3
XM_024452821.1:c.3806_3807del (MSH6) XP_024308589.1:p.Cys1269SerfsTer3
XM_024452822.1:c.3197_3198del (MSH6) XP_024308590.1:p.Cys1066SerfsTer3
NM_000179.3:c.4010_4011del (MSH6) MANE Select NP_000170.1:p.Cys1337SerfsTer3
NM_001281492.2:c.3620_3621del (MSH6) NP_001268421.1:p.Cys1207SerfsTer3
NM_001281493.2:c.3104_3105del (MSH6) NP_001268422.1:p.Cys1035SerfsTer3
NM_001281494.2:c.3104_3105del (MSH6) NP_001268423.1:p.Cys1035SerfsTer3