Canonical Allele Identifier: CA2580067162

Linked Data

ClinVar Variation Id: 1731879
ClinVar RCV Id: RCV002457399

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804958_47804959insT , CM000664.2:g.47804958_47804959insT GRCh38
NC_000002.11:g.48032097_48032098insT , CM000664.1:g.48032097_48032098insT GRCh37
NC_000002.10:g.47885601_47885602insT NCBI36
NG_007111.1:g.26812_26813insT , LRG_219:g.26812_26813insT
NG_008397.1:g.105717_105718insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3190_3191insT (MSH6) ENSP00000406248.2:p.Glu1064ValfsTer9
ENST00000420813.6:c.3190_3191insT (MSH6) ENSP00000390382.2:p.Glu1064ValfsTer9
ENST00000455383.6:c.3190_3191insT (MSH6) ENSP00000397484.2:p.Glu1064ValfsTer9
ENST00000700004.2:c.3173-660_3173-659insT (MSH6) ENSP00000514752.2:n.3173-660_3173-659insT
ENST00000699999.1:n.3571_3572insT (MSH6)
ENST00000700000.1:c.1921_1922insT (MSH6) ENSP00000514749.1:p.Glu641ValfsTer9
ENST00000700002.1:c.3493_3494insT (MSH6) ENSP00000514750.1:p.Glu1165ValfsTer9
ENST00000700003.1:c.942_943insT (MSH6) ENSP00000514751.1:n.942_943insT
ENST00000700004.1:c.2330-660_2330-659insT (MSH6) ENSP00000514752.1:n.2330-660_2330-659insT
ENST00000700005.1:n.2338_2339insT (MSH6)
ENST00000700006.1:n.3559_3560insT (MSH6)
ENST00000700007.1:n.1492_1493insT (MSH6)
ENST00000700008.1:n.1066_1067insT (MSH6)
ENST00000700009.1:n.1065_1066insT (MSH6)
ENST00000700010.1:n.896_897insT (MSH6)
ENST00000700011.1:n.2191_2192insT (MSH6)
ENST00000234420.11:c.3487_3488insT (MSH6) MANE Select ENSP00000234420.5:p.Glu1163ValfsTer9
ENST00000540021.6:c.3097_3098insT (MSH6) ENSP00000446475.1:p.Glu1033ValfsTer9
ENST00000652107.1:c.3190_3191insT (MSH6) ENSP00000498629.1:p.Glu1064ValfsTer9
ENST00000673637.1:c.3190_3191insT (MSH6) ENSP00000501310.1:p.Glu1064ValfsTer9
ENST00000234420.9:c.3487_3488insT (MSH6) ENSP00000234420.4:p.Glu1163ValfsTer9
ENST00000405808.5:c.169+3236_169+3237insA (FBXO11) ENSP00000385127.1:n.169+3236_169+3237insA
ENST00000434234.5:c.*124+3035_*124+3036insA (FBXO11) ENSP00000402692.1:n.*124+3035_*124+3036insA
ENST00000445503.5:c.*2834_*2835insT (MSH6) ENSP00000405294.1:n.*2834_*2835insT
ENST00000538136.1:c.2581_2582insT (MSH6) ENSP00000438580.1:p.Glu861ValfsTer9
ENST00000540021.5:c.3097_3098insT (MSH6) ENSP00000446475.1:p.Glu1033ValfsTer9
ENST00000614496.4:c.2581_2582insT (MSH6) ENSP00000477844.1:p.Glu861ValfsTer9
ENST00000622629.4:c.391_392insT (MSH6) ENSP00000482078.1:p.Glu131ValfsTer9
NM_000179.2:c.3487_3488insT , LRG_219t1:c.3487_3488insT (MSH6) NP_000170.1:p.Glu1163ValfsTer9
NM_001281492.1:c.3097_3098insT (MSH6) NP_001268421.1:p.Glu1033ValfsTer9
NM_001281493.1:c.2581_2582insT (MSH6) NP_001268422.1:p.Glu861ValfsTer9
NM_001281494.1:c.2581_2582insT (MSH6) NP_001268423.1:p.Glu861ValfsTer9
XM_005264271.1:c.3190_3191insT (MSH6) XP_005264328.1:p.Glu1064ValfsTer9
XM_011532798.1:c.3304_3305insT (MSH6) XP_011531100.1:p.Glu1102ValfsTer9
XM_011532799.1:c.3190_3191insT (MSH6) XP_011531101.1:p.Glu1064ValfsTer9
XM_011532800.1:c.3190_3191insT (MSH6) XP_011531102.1:p.Glu1064ValfsTer9
XM_024452819.1:c.3487_3488insT (MSH6) XP_024308587.1:p.Glu1163ValfsTer9
XM_024452820.1:c.3304_3305insT (MSH6) XP_024308588.1:p.Glu1102ValfsTer9
XM_024452821.1:c.3190_3191insT (MSH6) XP_024308589.1:p.Glu1064ValfsTer9
XM_024452822.1:c.2581_2582insT (MSH6) XP_024308590.1:p.Glu861ValfsTer9
NM_000179.3:c.3487_3488insT (MSH6) MANE Select NP_000170.1:p.Glu1163ValfsTer9
NM_001281492.2:c.3097_3098insT (MSH6) NP_001268421.1:p.Glu1033ValfsTer9
NM_001281493.2:c.2581_2582insT (MSH6) NP_001268422.1:p.Glu861ValfsTer9
NM_001281494.2:c.2581_2582insT (MSH6) NP_001268423.1:p.Glu861ValfsTer9