Canonical Allele Identifier: CA2580067291

Linked Data

ClinVar Variation Id: 1734109
ClinVar RCV Id: RCV002348936

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806259_47806267del , CM000664.2:g.47806259_47806267del GRCh38
NC_000002.11:g.48033398_48033406del , CM000664.1:g.48033398_48033406del GRCh37
NC_000002.10:g.47886902_47886910del NCBI36
NG_007111.1:g.28113_28121del , LRG_219:g.28113_28121del
NG_008397.1:g.104411_104419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3405_3413del (MSH6) ENSP00000406248.2:p.Leu1136_Glu1138del
ENST00000420813.6:c.3405_3413del (MSH6) ENSP00000390382.2:p.Leu1136_Glu1138del
ENST00000455383.6:c.3405_3413del (MSH6) ENSP00000397484.2:p.Leu1136_Glu1138del
ENST00000700004.2:c.3318_3326del (MSH6) ENSP00000514752.2:p.Leu1107_Glu1109del
ENST00000699999.1:n.4376_4384del (MSH6)
ENST00000700000.1:c.2136_2144del (MSH6) ENSP00000514749.1:p.Leu713_Glu715del
ENST00000700002.1:c.3708_3716del (MSH6) ENSP00000514750.1:p.Leu1237_Glu1239del
ENST00000700003.1:c.1157_1165del (MSH6) ENSP00000514751.1:n.1157_1165del
ENST00000700004.1:c.2475_2483del (MSH6) ENSP00000514752.1:p.Leu826_Glu828del
ENST00000700005.1:n.2553_2561del (MSH6)
ENST00000700006.1:n.4860_4868del (MSH6)
ENST00000700007.1:n.2297_2305del (MSH6)
ENST00000700008.1:n.1871_1879del (MSH6)
ENST00000700009.1:n.2366_2374del (MSH6)
ENST00000700010.1:n.1111_1119del (MSH6)
ENST00000700011.1:n.2996_3004del (MSH6)
ENST00000682451.1:n.4483_4491del (FBXO11)
ENST00000684712.1:n.4745_4753del (FBXO11)
ENST00000234420.11:c.3702_3710del (MSH6) MANE Select ENSP00000234420.5:p.Leu1235_Glu1237del
ENST00000540021.6:c.3312_3320del (MSH6) ENSP00000446475.1:p.Leu1105_Glu1107del
ENST00000652107.1:c.3405_3413del (MSH6) ENSP00000498629.1:p.Leu1136_Glu1138del
ENST00000673637.1:c.3405_3413del (MSH6) ENSP00000501310.1:p.Leu1136_Glu1138del
ENST00000234420.9:c.3702_3710del (MSH6) ENSP00000234420.4:p.Leu1235_Glu1237del
ENST00000405808.5:c.169+1930_169+1938del (FBXO11) ENSP00000385127.1:n.169+1930_169+1938del
ENST00000434234.5:c.*124+1729_*124+1737del (FBXO11) ENSP00000402692.1:n.*124+1729_*124+1737del
ENST00000445503.5:c.*3049_*3057del (MSH6) ENSP00000405294.1:n.*3049_*3057del
ENST00000538136.1:c.2796_2804del (MSH6) ENSP00000438580.1:p.Leu933_Glu935del
ENST00000540021.5:c.3312_3320del (MSH6) ENSP00000446475.1:p.Leu1105_Glu1107del
ENST00000614496.4:c.2796_2804del (MSH6) ENSP00000477844.1:p.Leu933_Glu935del
ENST00000622629.4:c.606_614del (MSH6) ENSP00000482078.1:p.Leu203_Glu205del
NM_000179.2:c.3702_3710del , LRG_219t1:c.3702_3710del (MSH6) NP_000170.1:p.Leu1235_Glu1237del
NM_001281492.1:c.3312_3320del (MSH6) NP_001268421.1:p.Leu1105_Glu1107del
NM_001281493.1:c.2796_2804del (MSH6) NP_001268422.1:p.Leu933_Glu935del
NM_001281494.1:c.2796_2804del (MSH6) NP_001268423.1:p.Leu933_Glu935del
XM_005264271.1:c.3405_3413del (MSH6) XP_005264328.1:p.Leu1136_Glu1138del
XM_011532798.1:c.3519_3527del (MSH6) XP_011531100.1:p.Leu1174_Glu1176del
XM_011532799.1:c.3405_3413del (MSH6) XP_011531101.1:p.Leu1136_Glu1138del
XM_011532800.1:c.3405_3413del (MSH6) XP_011531102.1:p.Leu1136_Glu1138del
XM_024452819.1:c.3702_3710del (MSH6) XP_024308587.1:p.Leu1235_Glu1237del
XM_024452820.1:c.3519_3527del (MSH6) XP_024308588.1:p.Leu1174_Glu1176del
XM_024452821.1:c.3405_3413del (MSH6) XP_024308589.1:p.Leu1136_Glu1138del
XM_024452822.1:c.2796_2804del (MSH6) XP_024308590.1:p.Leu933_Glu935del
NM_000179.3:c.3702_3710del (MSH6) MANE Select NP_000170.1:p.Leu1235_Glu1237del
NM_001281492.2:c.3312_3320del (MSH6) NP_001268421.1:p.Leu1105_Glu1107del
NM_001281493.2:c.2796_2804del (MSH6) NP_001268422.1:p.Leu933_Glu935del
NM_001281494.2:c.2796_2804del (MSH6) NP_001268423.1:p.Leu933_Glu935del