Canonical Allele Identifier: CA2580067260

Linked Data

ClinVar Variation Id: 1765434
ClinVar RCV Id: RCV002376357

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798883_47798896del , CM000664.2:g.47798883_47798896del GRCh38
NC_000002.11:g.48026022_48026035del , CM000664.1:g.48026022_48026035del GRCh37
NC_000002.10:g.47879526_47879539del NCBI36
NG_007111.1:g.20737_20750del , LRG_219:g.20737_20750del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.603_616del (MSH6) ENSP00000406248.2:p.Lys202TrpfsTer6
ENST00000420813.6:c.603_616del (MSH6) ENSP00000390382.2:p.Lys202TrpfsTer6
ENST00000455383.6:c.603_616del (MSH6) ENSP00000397484.2:p.Lys202TrpfsTer6
ENST00000700004.2:c.900_913del (MSH6) ENSP00000514752.2:p.Lys301TrpfsTer6
ENST00000699999.1:n.984_997del (MSH6)
ENST00000700000.1:c.900_913del (MSH6) ENSP00000514749.1:p.Lys301TrpfsTer6
ENST00000700002.1:c.906_919del (MSH6) ENSP00000514750.1:p.Lys303TrpfsTer6
ENST00000700003.1:c.627+2820_627+2833del (MSH6) ENSP00000514751.1:n.627+2820_627+2833del
ENST00000700004.1:c.57_70del (MSH6) ENSP00000514752.1:p.Lys20TrpfsTer6
ENST00000234420.11:c.900_913del (MSH6) MANE Select ENSP00000234420.5:p.Lys301TrpfsTer6
ENST00000540021.6:c.510_523del (MSH6) ENSP00000446475.1:p.Lys171TrpfsTer6
ENST00000652107.1:c.603_616del (MSH6) ENSP00000498629.1:p.Lys202TrpfsTer6
ENST00000673637.1:c.603_616del (MSH6) ENSP00000501310.1:p.Lys202TrpfsTer6
ENST00000234420.9:c.900_913del (MSH6) ENSP00000234420.4:p.Lys301TrpfsTer6
ENST00000405808.5:c.169+9299_169+9312del (FBXO11) ENSP00000385127.1:n.169+9299_169+9312del
ENST00000434234.5:c.*124+9098_*124+9111del (FBXO11) ENSP00000402692.1:n.*124+9098_*124+9111del
ENST00000445503.5:c.*247_*260del (MSH6) ENSP00000405294.1:n.*247_*260del
ENST00000456246.1:c.*388_*401del (MSH6) ENSP00000410570.1:n.*388_*401del
ENST00000538136.1:c.-7_7del (MSH6)
ENST00000540021.5:c.510_523del (MSH6) ENSP00000446475.1:p.Lys171TrpfsTer6
ENST00000614496.4:c.-7_7del (MSH6)
ENST00000616033.4:c.897_910del (MSH6) ENSP00000480261.1:p.Lys300TrpfsTer6
ENST00000622629.4:c.-2197_-2184del (MSH6) ENSP00000482078.1:n.-2197_-2184del
NM_000179.2:c.900_913del , LRG_219t1:c.900_913del (MSH6) NP_000170.1:p.Lys301TrpfsTer6
NM_001281492.1:c.510_523del (MSH6) NP_001268421.1:p.Lys171TrpfsTer6
NM_001281493.1:c.-7_7del (MSH6)
NM_001281494.1:c.-7_7del (MSH6)
XM_005264271.1:c.603_616del (MSH6) XP_005264328.1:p.Lys202TrpfsTer6
XM_011532798.1:c.717_730del (MSH6) XP_011531100.1:p.Lys240TrpfsTer6
XM_011532799.1:c.603_616del (MSH6) XP_011531101.1:p.Lys202TrpfsTer6
XM_011532800.1:c.603_616del (MSH6) XP_011531102.1:p.Lys202TrpfsTer6
XM_024452819.1:c.900_913del (MSH6) XP_024308587.1:p.Lys301TrpfsTer6
XM_024452820.1:c.717_730del (MSH6) XP_024308588.1:p.Lys240TrpfsTer6
XM_024452821.1:c.603_616del (MSH6) XP_024308589.1:p.Lys202TrpfsTer6
XM_024452822.1:c.-7_7del (MSH6)
NM_000179.3:c.900_913del (MSH6) MANE Select NP_000170.1:p.Lys301TrpfsTer6
NM_001281492.2:c.510_523del (MSH6) NP_001268421.1:p.Lys171TrpfsTer6
NM_001281493.2:c.-7_7del (MSH6)
NM_001281494.2:c.-7_7del (MSH6)