Canonical Allele Identifier: CA2555354714

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806808_47806832dup , CM000664.2:g.47806808_47806832dup GRCh38
NC_000002.11:g.48033947_48033971dup , CM000664.1:g.48033947_48033971dup GRCh37
NC_000002.10:g.47887451_47887475dup NCBI36
NG_007111.1:g.28662_28686dup , LRG_219:g.28662_28686dup
NG_008397.1:g.103846_103870dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3734_3758dup (MSH6) ENSP00000406248.2:p.Lys1253AsnfsTer5
ENST00000420813.6:c.3734_3758dup (MSH6) ENSP00000390382.2:p.Lys1253AsnfsTer5
ENST00000455383.6:c.3734_3758dup (MSH6) ENSP00000397484.2:p.Lys1253AsnfsTer5
ENST00000700004.2:c.3647_3671dup (MSH6) ENSP00000514752.2:p.Lys1224AsnfsTer5
ENST00000699999.1:n.4705_4729dup (MSH6)
ENST00000700000.1:c.2465_2489dup (MSH6) ENSP00000514749.1:p.Lys830AsnfsTer5
ENST00000700002.1:c.4037_4061dup (MSH6) ENSP00000514750.1:p.Lys1354AsnfsTer5
ENST00000700003.1:c.1486_1510dup (MSH6) ENSP00000514751.1:n.1486_1510dup
ENST00000700004.1:c.2804_2828dup (MSH6) ENSP00000514752.1:p.Lys943AsnfsTer5
ENST00000700005.1:n.3009_3033dup (MSH6)
ENST00000700007.1:n.2626_2650dup (MSH6)
ENST00000700008.1:n.2293_2317dup (MSH6)
ENST00000700009.1:n.2695_2719dup (MSH6)
ENST00000700010.1:n.1440_1464dup (MSH6)
ENST00000700011.1:n.3325_3349dup (MSH6)
ENST00000682451.1:n.3918_3942dup (FBXO11)
ENST00000684712.1:n.4180_4204dup (FBXO11)
ENST00000234420.11:c.4031_4055dup (MSH6) MANE Select ENSP00000234420.5:p.Lys1352AsnfsTer5
ENST00000540021.6:c.3641_3665dup (MSH6) ENSP00000446475.1:p.Lys1222AsnfsTer5
ENST00000652107.1:c.3734_3758dup (MSH6) ENSP00000498629.1:p.Lys1253AsnfsTer5
ENST00000673637.1:c.3734_3758dup (MSH6) ENSP00000501310.1:p.Lys1253AsnfsTer5
ENST00000234420.9:c.4031_4055dup (MSH6) ENSP00000234420.4:p.Lys1352AsnfsTer5
ENST00000405808.5:c.169+1365_169+1389dup (FBXO11) ENSP00000385127.1:n.169+1365_169+1389dup
ENST00000434234.5:c.*124+1164_*124+1188dup (FBXO11) ENSP00000402692.1:n.*124+1164_*124+1188dup
ENST00000445503.5:c.*3378_*3402dup (MSH6) ENSP00000405294.1:n.*3378_*3402dup
ENST00000465204.5:n.3080_3104dup (FBXO11)
ENST00000538136.1:c.3125_3149dup (MSH6) ENSP00000438580.1:p.Lys1050AsnfsTer5
ENST00000540021.5:c.3641_3665dup (MSH6) ENSP00000446475.1:p.Lys1222AsnfsTer5
ENST00000614496.4:c.3125_3149dup (MSH6) ENSP00000477844.1:p.Lys1050AsnfsTer5
ENST00000622629.4:c.932_956dup (MSH6) ENSP00000482078.1:p.Lys319AsnfsTer5
NM_000179.2:c.4031_4055dup , LRG_219t1:c.4031_4055dup (MSH6) NP_000170.1:p.Lys1352AsnfsTer5
NM_001281492.1:c.3641_3665dup (MSH6) NP_001268421.1:p.Lys1222AsnfsTer5
NM_001281493.1:c.3125_3149dup (MSH6) NP_001268422.1:p.Lys1050AsnfsTer5
NM_001281494.1:c.3125_3149dup (MSH6) NP_001268423.1:p.Lys1050AsnfsTer5
XM_005264271.1:c.3734_3758dup (MSH6) XP_005264328.1:p.Lys1253AsnfsTer5
XM_011532798.1:c.3848_3872dup (MSH6) XP_011531100.1:p.Lys1291AsnfsTer5
XM_011532799.1:c.3734_3758dup (MSH6) XP_011531101.1:p.Lys1253AsnfsTer5
XM_011532800.1:c.3734_3758dup (MSH6) XP_011531102.1:p.Lys1253AsnfsTer5
XM_024452819.1:c.4124_4148dup (MSH6) XP_024308587.1:p.Lys1383AsnfsTer5
XM_024452820.1:c.3941_3965dup (MSH6) XP_024308588.1:p.Lys1322AsnfsTer5
XM_024452821.1:c.3827_3851dup (MSH6) XP_024308589.1:p.Lys1284AsnfsTer5
XM_024452822.1:c.3218_3242dup (MSH6) XP_024308590.1:p.Lys1081AsnfsTer5
NM_000179.3:c.4031_4055dup (MSH6) MANE Select NP_000170.1:p.Lys1352AsnfsTer5
NM_001281492.2:c.3641_3665dup (MSH6) NP_001268421.1:p.Lys1222AsnfsTer5
NM_001281493.2:c.3125_3149dup (MSH6) NP_001268422.1:p.Lys1050AsnfsTer5
NM_001281494.2:c.3125_3149dup (MSH6) NP_001268423.1:p.Lys1050AsnfsTer5