Canonical Allele Identifier: CA011888

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803445_47803446dup , CM000664.2:g.47803445_47803446dup GRCh38
NC_000002.11:g.48030584_48030585dup , CM000664.1:g.48030584_48030585dup GRCh37
NC_000002.10:g.47884088_47884089dup NCBI36
NG_007111.1:g.25299_25300dup , LRG_219:g.25299_25300dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2901_2902dup (MSH6) ENSP00000406248.2:p.Ser968IlefsTer13
ENST00000420813.6:c.2901_2902dup (MSH6) ENSP00000390382.2:p.Ser968IlefsTer13
ENST00000455383.6:c.2901_2902dup (MSH6) ENSP00000397484.2:p.Ser968IlefsTer13
ENST00000700004.2:c.3173-2173_3173-2172dup (MSH6) ENSP00000514752.2:n.3173-2173_3173-2172dup
ENST00000699999.1:n.3282_3283dup (MSH6)
ENST00000700000.1:c.1632_1633dup (MSH6) ENSP00000514749.1:p.Ser545IlefsTer13
ENST00000700002.1:c.3204_3205dup (MSH6) ENSP00000514750.1:p.Ser1069IlefsTer13
ENST00000700003.1:c.653_654dup (MSH6) ENSP00000514751.1:p.Val219Ter
ENST00000700004.1:c.2330-2173_2330-2172dup (MSH6) ENSP00000514752.1:n.2330-2173_2330-2172dup
ENST00000700005.1:n.2049_2050dup (MSH6)
ENST00000700006.1:n.2046_2047dup (MSH6)
ENST00000700007.1:n.1203_1204dup (MSH6)
ENST00000700008.1:n.777_778dup (MSH6)
ENST00000700009.1:n.776_777dup (MSH6)
ENST00000700010.1:n.607_608dup (MSH6)
ENST00000700011.1:n.678_679dup (MSH6)
ENST00000234420.11:c.3198_3199dup (MSH6) MANE Select ENSP00000234420.5:p.Ser1067IlefsTer13
ENST00000540021.6:c.2808_2809dup (MSH6) ENSP00000446475.1:p.Ser937IlefsTer13
ENST00000652107.1:c.2901_2902dup (MSH6) ENSP00000498629.1:p.Ser968IlefsTer13
ENST00000673637.1:c.2901_2902dup (MSH6) ENSP00000501310.1:p.Ser968IlefsTer13
ENST00000234420.9:c.3198_3199dup (MSH6) ENSP00000234420.4:p.Ser1067IlefsTer13
ENST00000405808.5:c.169+4751_169+4752dup (FBXO11) ENSP00000385127.1:n.169+4751_169+4752dup
ENST00000434234.5:c.*124+4550_*124+4551dup (FBXO11) ENSP00000402692.1:n.*124+4550_*124+4551dup
ENST00000445503.5:c.*2545_*2546dup (MSH6) ENSP00000405294.1:n.*2545_*2546dup
ENST00000538136.1:c.2292_2293dup (MSH6) ENSP00000438580.1:p.Ser765IlefsTer13
ENST00000540021.5:c.2808_2809dup (MSH6) ENSP00000446475.1:p.Ser937IlefsTer13
ENST00000614496.4:c.2292_2293dup (MSH6) ENSP00000477844.1:p.Ser765IlefsTer13
ENST00000622629.4:c.102_103dup (MSH6) ENSP00000482078.1:p.Ser35IlefsTer13
NM_000179.2:c.3198_3199dup , LRG_219t1:c.3198_3199dup (MSH6) NP_000170.1:p.Ser1067IlefsTer13
NM_001281492.1:c.2808_2809dup (MSH6) NP_001268421.1:p.Ser937IlefsTer13
NM_001281493.1:c.2292_2293dup (MSH6) NP_001268422.1:p.Ser765IlefsTer13
NM_001281494.1:c.2292_2293dup (MSH6) NP_001268423.1:p.Ser765IlefsTer13
XM_005264271.1:c.2901_2902dup (MSH6) XP_005264328.1:p.Ser968IlefsTer13
XM_011532798.1:c.3015_3016dup (MSH6) XP_011531100.1:p.Ser1006IlefsTer13
XM_011532799.1:c.2901_2902dup (MSH6) XP_011531101.1:p.Ser968IlefsTer13
XM_011532800.1:c.2901_2902dup (MSH6) XP_011531102.1:p.Ser968IlefsTer13
XM_024452819.1:c.3198_3199dup (MSH6) XP_024308587.1:p.Ser1067IlefsTer13
XM_024452820.1:c.3015_3016dup (MSH6) XP_024308588.1:p.Ser1006IlefsTer13
XM_024452821.1:c.2901_2902dup (MSH6) XP_024308589.1:p.Ser968IlefsTer13
XM_024452822.1:c.2292_2293dup (MSH6) XP_024308590.1:p.Ser765IlefsTer13
NM_000179.3:c.3198_3199dup (MSH6) MANE Select NP_000170.1:p.Ser1067IlefsTer13
NM_001281492.2:c.2808_2809dup (MSH6) NP_001268421.1:p.Ser937IlefsTer13
NM_001281493.2:c.2292_2293dup (MSH6) NP_001268422.1:p.Ser765IlefsTer13
NM_001281494.2:c.2292_2293dup (MSH6) NP_001268423.1:p.Ser765IlefsTer13