Canonical Allele Identifier: CA658655715

Linked Data

ClinVar Variation Id: 487035
dbSNP Id: rs1553332283

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804995_47805011delinsTT , CM000664.2:g.47804995_47805011delinsTT GRCh38
NC_000002.11:g.48032134_48032150delinsTT , CM000664.1:g.48032134_48032150delinsTT GRCh37
NC_000002.10:g.47885638_47885654delinsTT NCBI36
NG_007111.1:g.26849_26865delinsTT , LRG_219:g.26849_26865delinsTT
NG_008397.1:g.105665_105681delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3227_3243delinsTT (MSH6) ENSP00000406248.2:p.Thr1076_Ser1081delinsIle
ENST00000420813.6:c.3227_3243delinsTT (MSH6) ENSP00000390382.2:p.Thr1076_Ser1081delinsIle
ENST00000455383.6:c.3227_3243delinsTT (MSH6) ENSP00000397484.2:p.Thr1076_Ser1081delinsIle
ENST00000700004.2:c.3173-623_3173-607delinsTT (MSH6) ENSP00000514752.2:n.3173-623_3173-607delinsTT
ENST00000699999.1:n.3608_3624delinsTT (MSH6)
ENST00000700000.1:c.1958_1974delinsTT (MSH6) ENSP00000514749.1:p.Thr653_Ser658delinsIle
ENST00000700002.1:c.3530_3546delinsTT (MSH6) ENSP00000514750.1:p.Thr1177_Ser1182delinsIle
ENST00000700003.1:c.979_995delinsTT (MSH6) ENSP00000514751.1:n.979_995delinsTT
ENST00000700004.1:c.2330-623_2330-607delinsTT (MSH6) ENSP00000514752.1:n.2330-623_2330-607delinsTT
ENST00000700005.1:n.2375_2391delinsTT (MSH6)
ENST00000700006.1:n.3596_3612delinsTT (MSH6)
ENST00000700007.1:n.1529_1545delinsTT (MSH6)
ENST00000700008.1:n.1103_1119delinsTT (MSH6)
ENST00000700009.1:n.1102_1118delinsTT (MSH6)
ENST00000700010.1:n.933_949delinsTT (MSH6)
ENST00000700011.1:n.2228_2244delinsTT (MSH6)
ENST00000234420.11:c.3524_3540delinsTT (MSH6) MANE Select ENSP00000234420.5:p.Thr1175_Ser1180delinsIle
ENST00000540021.6:c.3134_3150delinsTT (MSH6) ENSP00000446475.1:p.Thr1045_Ser1050delinsIle
ENST00000652107.1:c.3227_3243delinsTT (MSH6) ENSP00000498629.1:p.Thr1076_Ser1081delinsIle
ENST00000673637.1:c.3227_3243delinsTT (MSH6) ENSP00000501310.1:p.Thr1076_Ser1081delinsIle
ENST00000234420.9:c.3524_3540delinsTT (MSH6) ENSP00000234420.4:p.Thr1175_Ser1180delinsIle
ENST00000405808.5:c.169+3184_169+3200delinsAA (FBXO11) ENSP00000385127.1:n.169+3184_169+3200delinsAA
ENST00000434234.5:c.*124+2983_*124+2999delinsAA (FBXO11) ENSP00000402692.1:n.*124+2983_*124+2999delinsAA
ENST00000445503.5:c.*2871_*2887delinsTT (MSH6) ENSP00000405294.1:n.*2871_*2887delinsTT
ENST00000538136.1:c.2618_2634delinsTT (MSH6) ENSP00000438580.1:p.Thr873_Ser878delinsIle
ENST00000540021.5:c.3134_3150delinsTT (MSH6) ENSP00000446475.1:p.Thr1045_Ser1050delinsIle
ENST00000614496.4:c.2618_2634delinsTT (MSH6) ENSP00000477844.1:p.Thr873_Ser878delinsIle
ENST00000622629.4:c.428_444delinsTT (MSH6) ENSP00000482078.1:p.Thr143_Ser148delinsIle
NM_000179.2:c.3524_3540delinsTT , LRG_219t1:c.3524_3540delinsTT (MSH6) NP_000170.1:p.Thr1175_Ser1180delinsIle
NM_001281492.1:c.3134_3150delinsTT (MSH6) NP_001268421.1:p.Thr1045_Ser1050delinsIle
NM_001281493.1:c.2618_2634delinsTT (MSH6) NP_001268422.1:p.Thr873_Ser878delinsIle
NM_001281494.1:c.2618_2634delinsTT (MSH6) NP_001268423.1:p.Thr873_Ser878delinsIle
XM_005264271.1:c.3227_3243delinsTT (MSH6) XP_005264328.1:p.Thr1076_Ser1081delinsIle
XM_011532798.1:c.3341_3357delinsTT (MSH6) XP_011531100.1:p.Thr1114_Ser1119delinsIle
XM_011532799.1:c.3227_3243delinsTT (MSH6) XP_011531101.1:p.Thr1076_Ser1081delinsIle
XM_011532800.1:c.3227_3243delinsTT (MSH6) XP_011531102.1:p.Thr1076_Ser1081delinsIle
XM_024452819.1:c.3524_3540delinsTT (MSH6) XP_024308587.1:p.Thr1175_Ser1180delinsIle
XM_024452820.1:c.3341_3357delinsTT (MSH6) XP_024308588.1:p.Thr1114_Ser1119delinsIle
XM_024452821.1:c.3227_3243delinsTT (MSH6) XP_024308589.1:p.Thr1076_Ser1081delinsIle
XM_024452822.1:c.2618_2634delinsTT (MSH6) XP_024308590.1:p.Thr873_Ser878delinsIle
NM_000179.3:c.3524_3540delinsTT (MSH6) MANE Select NP_000170.1:p.Thr1175_Ser1180delinsIle
NM_001281492.2:c.3134_3150delinsTT (MSH6) NP_001268421.1:p.Thr1045_Ser1050delinsIle
NM_001281493.2:c.2618_2634delinsTT (MSH6) NP_001268422.1:p.Thr873_Ser878delinsIle
NM_001281494.2:c.2618_2634delinsTT (MSH6) NP_001268423.1:p.Thr873_Ser878delinsIle