Canonical Allele Identifier: CA658655732

Linked Data

ClinVar Variation Id: 455276
ClinVar RCV Id: RCV000530800
dbSNP Id: rs1553332973

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806214_47806218delinsCTCAT , CM000664.2:g.47806214_47806218delinsCTCAT GRCh38
NC_000002.11:g.48033353_48033357delinsCTCAT , CM000664.1:g.48033353_48033357delinsCTCAT GRCh37
NC_000002.10:g.47886857_47886861delinsCTCAT NCBI36
NG_007111.1:g.28068_28072delinsCTCAT , LRG_219:g.28068_28072delinsCTCAT
NG_008397.1:g.104458_104462delinsATGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3360_3364delinsCTCAT (MSH6) ENSP00000406248.2:p.Ala1121_Thr1122delinsSerSer
ENST00000420813.6:c.3360_3364delinsCTCAT (MSH6) ENSP00000390382.2:p.Ala1121_Thr1122delinsSerSer
ENST00000455383.6:c.3360_3364delinsCTCAT (MSH6) ENSP00000397484.2:p.Ala1121_Thr1122delinsSerSer
ENST00000700004.2:c.3273_3277delinsCTCAT (MSH6) ENSP00000514752.2:p.Ala1092_Thr1093delinsSerSer
ENST00000699999.1:n.4331_4335delinsCTCAT (MSH6)
ENST00000700000.1:c.2091_2095delinsCTCAT (MSH6) ENSP00000514749.1:p.Ala698_Thr699delinsSerSer
ENST00000700002.1:c.3663_3667delinsCTCAT (MSH6) ENSP00000514750.1:p.Ala1222_Thr1223delinsSerSer
ENST00000700003.1:c.1112_1116delinsCTCAT (MSH6) ENSP00000514751.1:n.1112_1116delinsCTCAT
ENST00000700004.1:c.2430_2434delinsCTCAT (MSH6) ENSP00000514752.1:p.Ala811_Thr812delinsSerSer
ENST00000700005.1:n.2508_2512delinsCTCAT (MSH6)
ENST00000700006.1:n.4815_4819delinsCTCAT (MSH6)
ENST00000700007.1:n.2252_2256delinsCTCAT (MSH6)
ENST00000700008.1:n.1826_1830delinsCTCAT (MSH6)
ENST00000700009.1:n.2321_2325delinsCTCAT (MSH6)
ENST00000700010.1:n.1066_1070delinsCTCAT (MSH6)
ENST00000700011.1:n.2951_2955delinsCTCAT (MSH6)
ENST00000682451.1:n.4530_4534delinsATGAG (FBXO11)
ENST00000684712.1:n.4792_4796delinsATGAG (FBXO11)
ENST00000234420.11:c.3657_3661delinsCTCAT (MSH6) MANE Select ENSP00000234420.5:p.Ala1220_Thr1221delinsSerSer
ENST00000540021.6:c.3267_3271delinsCTCAT (MSH6) ENSP00000446475.1:p.Ala1090_Thr1091delinsSerSer
ENST00000652107.1:c.3360_3364delinsCTCAT (MSH6) ENSP00000498629.1:p.Ala1121_Thr1122delinsSerSer
ENST00000673637.1:c.3360_3364delinsCTCAT (MSH6) ENSP00000501310.1:p.Ala1121_Thr1122delinsSerSer
ENST00000234420.9:c.3657_3661delinsCTCAT (MSH6) ENSP00000234420.4:p.Ala1220_Thr1221delinsSerSer
ENST00000405808.5:c.169+1977_169+1981delinsATGAG (FBXO11) ENSP00000385127.1:n.169+1977_169+1981delinsATGAG
ENST00000434234.5:c.*124+1776_*124+1780delinsATGAG (FBXO11) ENSP00000402692.1:n.*124+1776_*124+1780delinsATGAG
ENST00000445503.5:c.*3004_*3008delinsCTCAT (MSH6) ENSP00000405294.1:n.*3004_*3008delinsCTCAT
ENST00000538136.1:c.2751_2755delinsCTCAT (MSH6) ENSP00000438580.1:p.Ala918_Thr919delinsSerSer
ENST00000540021.5:c.3267_3271delinsCTCAT (MSH6) ENSP00000446475.1:p.Ala1090_Thr1091delinsSerSer
ENST00000614496.4:c.2751_2755delinsCTCAT (MSH6) ENSP00000477844.1:p.Ala918_Thr919delinsSerSer
ENST00000622629.4:c.561_565delinsCTCAT (MSH6) ENSP00000482078.1:p.Ala188_Thr189delinsSerSer
NM_000179.2:c.3657_3661delinsCTCAT , LRG_219t1:c.3657_3661delinsCTCAT (MSH6) NP_000170.1:p.Ala1220_Thr1221delinsSerSer
NM_001281492.1:c.3267_3271delinsCTCAT (MSH6) NP_001268421.1:p.Ala1090_Thr1091delinsSerSer
NM_001281493.1:c.2751_2755delinsCTCAT (MSH6) NP_001268422.1:p.Ala918_Thr919delinsSerSer
NM_001281494.1:c.2751_2755delinsCTCAT (MSH6) NP_001268423.1:p.Ala918_Thr919delinsSerSer
XM_005264271.1:c.3360_3364delinsCTCAT (MSH6) XP_005264328.1:p.Ala1121_Thr1122delinsSerSer
XM_011532798.1:c.3474_3478delinsCTCAT (MSH6) XP_011531100.1:p.Ala1159_Thr1160delinsSerSer
XM_011532799.1:c.3360_3364delinsCTCAT (MSH6) XP_011531101.1:p.Ala1121_Thr1122delinsSerSer
XM_011532800.1:c.3360_3364delinsCTCAT (MSH6) XP_011531102.1:p.Ala1121_Thr1122delinsSerSer
XM_024452819.1:c.3657_3661delinsCTCAT (MSH6) XP_024308587.1:p.Ala1220_Thr1221delinsSerSer
XM_024452820.1:c.3474_3478delinsCTCAT (MSH6) XP_024308588.1:p.Ala1159_Thr1160delinsSerSer
XM_024452821.1:c.3360_3364delinsCTCAT (MSH6) XP_024308589.1:p.Ala1121_Thr1122delinsSerSer
XM_024452822.1:c.2751_2755delinsCTCAT (MSH6) XP_024308590.1:p.Ala918_Thr919delinsSerSer
NM_000179.3:c.3657_3661delinsCTCAT (MSH6) MANE Select NP_000170.1:p.Ala1220_Thr1221delinsSerSer
NM_001281492.2:c.3267_3271delinsCTCAT (MSH6) NP_001268421.1:p.Ala1090_Thr1091delinsSerSer
NM_001281493.2:c.2751_2755delinsCTCAT (MSH6) NP_001268422.1:p.Ala918_Thr919delinsSerSer
NM_001281494.2:c.2751_2755delinsCTCAT (MSH6) NP_001268423.1:p.Ala918_Thr919delinsSerSer