Canonical Allele Identifier: CA2658950256

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803506_47803508dup , CM000664.2:g.47803506_47803508dup GRCh38
NC_000002.11:g.48030645_48030647dup , CM000664.1:g.48030645_48030647dup GRCh37
NC_000002.10:g.47884149_47884151dup NCBI36
NG_007111.1:g.25360_25362dup , LRG_219:g.25360_25362dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2962_2964dup (MSH6) ENSP00000406248.2:p.Pro988_Phe989insPro
ENST00000420813.6:c.2962_2964dup (MSH6) ENSP00000390382.2:p.Pro988_Phe989insPro
ENST00000455383.6:c.2962_2964dup (MSH6) ENSP00000397484.2:p.Pro988_Phe989insPro
ENST00000700004.2:c.3173-2112_3173-2110dup (MSH6) ENSP00000514752.2:n.3173-2112_3173-2110dup
ENST00000699999.1:n.3343_3345dup (MSH6)
ENST00000700000.1:c.1693_1695dup (MSH6) ENSP00000514749.1:p.Pro565_Phe566insPro
ENST00000700002.1:c.3265_3267dup (MSH6) ENSP00000514750.1:p.Pro1089_Phe1090insPro
ENST00000700003.1:c.714_716dup (MSH6) ENSP00000514751.1:n.714_716dup
ENST00000700004.1:c.2330-2112_2330-2110dup (MSH6) ENSP00000514752.1:n.2330-2112_2330-2110dup
ENST00000700005.1:n.2110_2112dup (MSH6)
ENST00000700006.1:n.2107_2109dup (MSH6)
ENST00000700007.1:n.1264_1266dup (MSH6)
ENST00000700008.1:n.838_840dup (MSH6)
ENST00000700009.1:n.837_839dup (MSH6)
ENST00000700010.1:n.668_670dup (MSH6)
ENST00000700011.1:n.739_741dup (MSH6)
ENST00000234420.11:c.3259_3261dup (MSH6) MANE Select ENSP00000234420.5:p.Pro1087_Phe1088insPro
ENST00000540021.6:c.2869_2871dup (MSH6) ENSP00000446475.1:p.Pro957_Phe958insPro
ENST00000652107.1:c.2962_2964dup (MSH6) ENSP00000498629.1:p.Pro988_Phe989insPro
ENST00000673637.1:c.2962_2964dup (MSH6) ENSP00000501310.1:p.Pro988_Phe989insPro
ENST00000234420.9:c.3259_3261dup (MSH6) ENSP00000234420.4:p.Pro1087_Phe1088insPro
ENST00000405808.5:c.169+4692_169+4694dup (FBXO11) ENSP00000385127.1:n.169+4692_169+4694dup
ENST00000434234.5:c.*124+4491_*124+4493dup (FBXO11) ENSP00000402692.1:n.*124+4491_*124+4493dup
ENST00000445503.5:c.*2606_*2608dup (MSH6) ENSP00000405294.1:n.*2606_*2608dup
ENST00000538136.1:c.2353_2355dup (MSH6) ENSP00000438580.1:p.Pro785_Phe786insPro
ENST00000540021.5:c.2869_2871dup (MSH6) ENSP00000446475.1:p.Pro957_Phe958insPro
ENST00000614496.4:c.2353_2355dup (MSH6) ENSP00000477844.1:p.Pro785_Phe786insPro
ENST00000622629.4:c.163_165dup (MSH6) ENSP00000482078.1:p.Pro55_Phe56insPro
NM_000179.2:c.3259_3261dup , LRG_219t1:c.3259_3261dup (MSH6) NP_000170.1:p.Pro1087_Phe1088insPro
NM_001281492.1:c.2869_2871dup (MSH6) NP_001268421.1:p.Pro957_Phe958insPro
NM_001281493.1:c.2353_2355dup (MSH6) NP_001268422.1:p.Pro785_Phe786insPro
NM_001281494.1:c.2353_2355dup (MSH6) NP_001268423.1:p.Pro785_Phe786insPro
XM_005264271.1:c.2962_2964dup (MSH6) XP_005264328.1:p.Pro988_Phe989insPro
XM_011532798.1:c.3076_3078dup (MSH6) XP_011531100.1:p.Pro1026_Phe1027insPro
XM_011532799.1:c.2962_2964dup (MSH6) XP_011531101.1:p.Pro988_Phe989insPro
XM_011532800.1:c.2962_2964dup (MSH6) XP_011531102.1:p.Pro988_Phe989insPro
XM_024452819.1:c.3259_3261dup (MSH6) XP_024308587.1:p.Pro1087_Phe1088insPro
XM_024452820.1:c.3076_3078dup (MSH6) XP_024308588.1:p.Pro1026_Phe1027insPro
XM_024452821.1:c.2962_2964dup (MSH6) XP_024308589.1:p.Pro988_Phe989insPro
XM_024452822.1:c.2353_2355dup (MSH6) XP_024308590.1:p.Pro785_Phe786insPro
NM_000179.3:c.3259_3261dup (MSH6) MANE Select NP_000170.1:p.Pro1087_Phe1088insPro
NM_001281492.2:c.2869_2871dup (MSH6) NP_001268421.1:p.Pro957_Phe958insPro
NM_001281493.2:c.2353_2355dup (MSH6) NP_001268422.1:p.Pro785_Phe786insPro
NM_001281494.2:c.2353_2355dup (MSH6) NP_001268423.1:p.Pro785_Phe786insPro