Canonical Allele Identifier: CA2580067183

Linked Data

ClinVar Variation Id: 1732188
ClinVar RCV Id: RCV002459244

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804985_47805011delinsTGAGGCACCAAGTCTAGTAAACACTCT , CM000664.2:g.47804985_47805011delinsTGAGGCACCAAGTCTAGTAAACACTCT GRCh38
NC_000002.11:g.48032124_48032150delinsTGAGGCACCAAGTCTAGTAAACACTCT , CM000664.1:g.48032124_48032150delinsTGAGGCACCAAGTCTAGTAAACACTCT GRCh37
NC_000002.10:g.47885628_47885654delinsTGAGGCACCAAGTCTAGTAAACACTCT NCBI36
NG_007111.1:g.26839_26865delinsTGAGGCACCAAGTCTAGTAAACACTCT , LRG_219:g.26839_26865delinsTGAGGCACCAAGTCTAGTAAACACTCT
NG_008397.1:g.105665_105691delinsAGAGTGTTTACTAGACTTGGTGCCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000406248.2:p.Arg1073Ter
ENST00000420813.6:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000390382.2:p.Arg1073Ter
ENST00000455383.6:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000397484.2:p.Arg1073Ter
ENST00000700004.2:c.3173-633_3173-607delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000514752.2:n.3173-633_3173-607delinsTGAGGCACCAAGTCTAGT...
ENST00000699999.1:n.3598_3624delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6)
ENST00000700000.1:c.1948_1974delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000514749.1:p.Arg650Ter
ENST00000700002.1:c.3520_3546delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000514750.1:p.Arg1174Ter
ENST00000700003.1:c.969_995delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000514751.1:n.969_995delinsTGAGGCACCAAGTCTAGTAAACACTCT
ENST00000700004.1:c.2330-633_2330-607delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000514752.1:n.2330-633_2330-607delinsTGAGGCACCAAGTCTAGT...
ENST00000700005.1:n.2365_2391delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6)
ENST00000700006.1:n.3586_3612delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6)
ENST00000700007.1:n.1519_1545delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6)
ENST00000700008.1:n.1093_1119delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6)
ENST00000700009.1:n.1092_1118delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6)
ENST00000700010.1:n.923_949delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6)
ENST00000700011.1:n.2218_2244delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6)
ENST00000234420.11:c.3514_3540delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) MANE Select ENSP00000234420.5:p.Arg1172Ter
ENST00000540021.6:c.3124_3150delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000446475.1:p.Arg1042Ter
ENST00000652107.1:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000498629.1:p.Arg1073Ter
ENST00000673637.1:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000501310.1:p.Arg1073Ter
ENST00000234420.9:c.3514_3540delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000234420.4:p.Arg1172Ter
ENST00000405808.5:c.169+3184_169+3210delinsAGAGTGTTTACTAGACTTGGTGCCTCA (FBXO11) ENSP00000385127.1:n.169+3184_169+3210delinsAGAGTGTTTACTAGACTT...
ENST00000434234.5:c.*124+2983_*124+3009delinsAGAGTGTTTACTAGACTTGGTGCCTCA (FBXO11) ENSP00000402692.1:n.*124+2983_*124+3009delinsAGAGTGTTTACTAGAC...
ENST00000445503.5:c.*2861_*2887delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000405294.1:n.*2861_*2887delinsTGAGGCACCAAGTCTAGTAAACAC...
ENST00000538136.1:c.2608_2634delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000438580.1:p.Arg870Ter
ENST00000540021.5:c.3124_3150delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000446475.1:p.Arg1042Ter
ENST00000614496.4:c.2608_2634delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000477844.1:p.Arg870Ter
ENST00000622629.4:c.418_444delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) ENSP00000482078.1:p.Arg140Ter
NM_000179.2:c.3514_3540delinsTGAGGCACCAAGTCTAGTAAACACTCT , LRG_219t1:c.3514_3540delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) NP_000170.1:p.Arg1172Ter
NM_001281492.1:c.3124_3150delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) NP_001268421.1:p.Arg1042Ter
NM_001281493.1:c.2608_2634delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) NP_001268422.1:p.Arg870Ter
NM_001281494.1:c.2608_2634delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) NP_001268423.1:p.Arg870Ter
XM_005264271.1:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) XP_005264328.1:p.Arg1073Ter
XM_011532798.1:c.3331_3357delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) XP_011531100.1:p.Arg1111Ter
XM_011532799.1:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) XP_011531101.1:p.Arg1073Ter
XM_011532800.1:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) XP_011531102.1:p.Arg1073Ter
XM_024452819.1:c.3514_3540delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) XP_024308587.1:p.Arg1172Ter
XM_024452820.1:c.3331_3357delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) XP_024308588.1:p.Arg1111Ter
XM_024452821.1:c.3217_3243delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) XP_024308589.1:p.Arg1073Ter
XM_024452822.1:c.2608_2634delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) XP_024308590.1:p.Arg870Ter
NM_000179.3:c.3514_3540delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) MANE Select NP_000170.1:p.Arg1172Ter
NM_001281492.2:c.3124_3150delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) NP_001268421.1:p.Arg1042Ter
NM_001281493.2:c.2608_2634delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) NP_001268422.1:p.Arg870Ter
NM_001281494.2:c.2608_2634delinsTGAGGCACCAAGTCTAGTAAACACTCT (MSH6) NP_001268423.1:p.Arg870Ter