Canonical Allele Identifier: CA2825001131

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805633_47805634dup , CM000664.2:g.47805633_47805634dup GRCh38
NC_000002.11:g.48032772_48032773dup , CM000664.1:g.48032772_48032773dup GRCh37
NC_000002.10:g.47886276_47886277dup NCBI36
NG_007111.1:g.27487_27488dup , LRG_219:g.27487_27488dup
NG_008397.1:g.105046_105047dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3275_3276dup (MSH6) ENSP00000406248.2:p.Val1093LeufsTer4
ENST00000420813.6:c.3275_3276dup (MSH6) ENSP00000390382.2:p.Val1093LeufsTer4
ENST00000455383.6:c.3275_3276dup (MSH6) ENSP00000397484.2:p.Val1093LeufsTer4
ENST00000700004.2:c.3188_3189dup (MSH6) ENSP00000514752.2:p.Val1064LeufsTer4
ENST00000699999.1:n.4246_4247dup (MSH6)
ENST00000700000.1:c.2006_2007dup (MSH6) ENSP00000514749.1:p.Val670LeufsTer4
ENST00000700002.1:c.3578_3579dup (MSH6) ENSP00000514750.1:p.Val1194LeufsTer4
ENST00000700003.1:c.1027_1028dup (MSH6) ENSP00000514751.1:n.1027_1028dup
ENST00000700004.1:c.2345_2346dup (MSH6) ENSP00000514752.1:p.Val783LeufsTer4
ENST00000700005.1:n.2423_2424dup (MSH6)
ENST00000700006.1:n.4234_4235dup (MSH6)
ENST00000700007.1:n.2167_2168dup (MSH6)
ENST00000700008.1:n.1741_1742dup (MSH6)
ENST00000700009.1:n.1740_1741dup (MSH6)
ENST00000700010.1:n.981_982dup (MSH6)
ENST00000700011.1:n.2866_2867dup (MSH6)
ENST00000234420.11:c.3572_3573dup (MSH6) MANE Select ENSP00000234420.5:p.Val1192LeufsTer4
ENST00000540021.6:c.3182_3183dup (MSH6) ENSP00000446475.1:p.Val1062LeufsTer4
ENST00000652107.1:c.3275_3276dup (MSH6) ENSP00000498629.1:p.Val1093LeufsTer4
ENST00000673637.1:c.3275_3276dup (MSH6) ENSP00000501310.1:p.Val1093LeufsTer4
ENST00000234420.9:c.3572_3573dup (MSH6) ENSP00000234420.4:p.Val1192LeufsTer4
ENST00000405808.5:c.169+2565_169+2566dup (FBXO11) ENSP00000385127.1:n.169+2565_169+2566dup
ENST00000434234.5:c.*124+2364_*124+2365dup (FBXO11) ENSP00000402692.1:n.*124+2364_*124+2365dup
ENST00000445503.5:c.*2919_*2920dup (MSH6) ENSP00000405294.1:n.*2919_*2920dup
ENST00000538136.1:c.2666_2667dup (MSH6) ENSP00000438580.1:p.Val890LeufsTer4
ENST00000540021.5:c.3182_3183dup (MSH6) ENSP00000446475.1:p.Val1062LeufsTer4
ENST00000614496.4:c.2666_2667dup (MSH6) ENSP00000477844.1:p.Val890LeufsTer4
ENST00000622629.4:c.476_477dup (MSH6) ENSP00000482078.1:p.Val160LeufsTer4
NM_000179.2:c.3572_3573dup , LRG_219t1:c.3572_3573dup (MSH6) NP_000170.1:p.Val1192LeufsTer4
NM_001281492.1:c.3182_3183dup (MSH6) NP_001268421.1:p.Val1062LeufsTer4
NM_001281493.1:c.2666_2667dup (MSH6) NP_001268422.1:p.Val890LeufsTer4
NM_001281494.1:c.2666_2667dup (MSH6) NP_001268423.1:p.Val890LeufsTer4
XM_005264271.1:c.3275_3276dup (MSH6) XP_005264328.1:p.Val1093LeufsTer4
XM_011532798.1:c.3389_3390dup (MSH6) XP_011531100.1:p.Val1131LeufsTer4
XM_011532799.1:c.3275_3276dup (MSH6) XP_011531101.1:p.Val1093LeufsTer4
XM_011532800.1:c.3275_3276dup (MSH6) XP_011531102.1:p.Val1093LeufsTer4
XM_024452819.1:c.3572_3573dup (MSH6) XP_024308587.1:p.Val1192LeufsTer4
XM_024452820.1:c.3389_3390dup (MSH6) XP_024308588.1:p.Val1131LeufsTer4
XM_024452821.1:c.3275_3276dup (MSH6) XP_024308589.1:p.Val1093LeufsTer4
XM_024452822.1:c.2666_2667dup (MSH6) XP_024308590.1:p.Val890LeufsTer4
NM_000179.3:c.3572_3573dup (MSH6) MANE Select NP_000170.1:p.Val1192LeufsTer4
NM_001281492.2:c.3182_3183dup (MSH6) NP_001268421.1:p.Val1062LeufsTer4
NM_001281493.2:c.2666_2667dup (MSH6) NP_001268422.1:p.Val890LeufsTer4
NM_001281494.2:c.2666_2667dup (MSH6) NP_001268423.1:p.Val890LeufsTer4