Canonical Allele Identifier: CA2580611334

Linked Data

ClinVar Variation Id: 2567461
ClinVar RCV Id: RCV003311255

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806598_47806603delinsCC , CM000664.2:g.47806598_47806603delinsCC GRCh38
NC_000002.11:g.48033737_48033742delinsCC , CM000664.1:g.48033737_48033742delinsCC GRCh37
NC_000002.10:g.47887241_47887246delinsCC NCBI36
NG_007111.1:g.28452_28457delinsCC , LRG_219:g.28452_28457delinsCC
NG_008397.1:g.104073_104078delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3651_3656delinsCC (MSH6) ENSP00000406248.2:p.His1218GlnfsTer9
ENST00000420813.6:c.3651_3656delinsCC (MSH6) ENSP00000390382.2:p.His1218GlnfsTer9
ENST00000455383.6:c.3651_3656delinsCC (MSH6) ENSP00000397484.2:p.His1218GlnfsTer9
ENST00000700004.2:c.3564_3569delinsCC (MSH6) ENSP00000514752.2:p.His1189GlnfsTer9
ENST00000699999.1:n.4622_4627delinsCC (MSH6)
ENST00000700000.1:c.2382_2387delinsCC (MSH6) ENSP00000514749.1:p.His795GlnfsTer9
ENST00000700002.1:c.3954_3959delinsCC (MSH6) ENSP00000514750.1:p.His1319GlnfsTer9
ENST00000700003.1:c.1403_1408delinsCC (MSH6) ENSP00000514751.1:n.1403_1408delinsCC
ENST00000700004.1:c.2721_2726delinsCC (MSH6) ENSP00000514752.1:p.His908GlnfsTer9
ENST00000700005.1:n.2799_2804delinsCC (MSH6)
ENST00000700006.1:n.5106_5111delinsCC (MSH6)
ENST00000700007.1:n.2543_2548delinsCC (MSH6)
ENST00000700008.1:n.2210_2215delinsCC (MSH6)
ENST00000700009.1:n.2612_2617delinsCC (MSH6)
ENST00000700010.1:n.1357_1362delinsCC (MSH6)
ENST00000700011.1:n.3242_3247delinsCC (MSH6)
ENST00000682451.1:n.4145_4150delinsGG (FBXO11)
ENST00000684712.1:n.4407_4412delinsGG (FBXO11)
ENST00000234420.11:c.3948_3953delinsCC (MSH6) MANE Select ENSP00000234420.5:p.His1317GlnfsTer9
ENST00000540021.6:c.3558_3563delinsCC (MSH6) ENSP00000446475.1:p.His1187GlnfsTer9
ENST00000652107.1:c.3651_3656delinsCC (MSH6) ENSP00000498629.1:p.His1218GlnfsTer9
ENST00000673637.1:c.3651_3656delinsCC (MSH6) ENSP00000501310.1:p.His1218GlnfsTer9
ENST00000234420.9:c.3948_3953delinsCC (MSH6) ENSP00000234420.4:p.His1317GlnfsTer9
ENST00000405808.5:c.169+1592_169+1597delinsGG (FBXO11) ENSP00000385127.1:n.169+1592_169+1597delinsGG
ENST00000434234.5:c.*124+1391_*124+1396delinsGG (FBXO11) ENSP00000402692.1:n.*124+1391_*124+1396delinsGG
ENST00000445503.5:c.*3295_*3300delinsCC (MSH6) ENSP00000405294.1:n.*3295_*3300delinsCC
ENST00000538136.1:c.3042_3047delinsCC (MSH6) ENSP00000438580.1:p.His1015GlnfsTer9
ENST00000540021.5:c.3558_3563delinsCC (MSH6) ENSP00000446475.1:p.His1187GlnfsTer9
ENST00000614496.4:c.3042_3047delinsCC (MSH6) ENSP00000477844.1:p.His1015GlnfsTer9
ENST00000622629.4:c.849_854delinsCC (MSH6) ENSP00000482078.1:p.His284GlnfsTer9
NM_000179.2:c.3948_3953delinsCC , LRG_219t1:c.3948_3953delinsCC (MSH6) NP_000170.1:p.His1317GlnfsTer9
NM_001281492.1:c.3558_3563delinsCC (MSH6) NP_001268421.1:p.His1187GlnfsTer9
NM_001281493.1:c.3042_3047delinsCC (MSH6) NP_001268422.1:p.His1015GlnfsTer9
NM_001281494.1:c.3042_3047delinsCC (MSH6) NP_001268423.1:p.His1015GlnfsTer9
XM_005264271.1:c.3651_3656delinsCC (MSH6) XP_005264328.1:p.His1218GlnfsTer9
XM_011532798.1:c.3765_3770delinsCC (MSH6) XP_011531100.1:p.His1256GlnfsTer9
XM_011532799.1:c.3651_3656delinsCC (MSH6) XP_011531101.1:p.His1218GlnfsTer9
XM_011532800.1:c.3651_3656delinsCC (MSH6) XP_011531102.1:p.His1218GlnfsTer9
XM_024452819.1:c.4041_4046delinsCC (MSH6) XP_024308587.1:p.His1348GlnfsTer9
XM_024452820.1:c.3858_3863delinsCC (MSH6) XP_024308588.1:p.His1287GlnfsTer9
XM_024452821.1:c.3744_3749delinsCC (MSH6) XP_024308589.1:p.His1249GlnfsTer9
XM_024452822.1:c.3135_3140delinsCC (MSH6) XP_024308590.1:p.His1046GlnfsTer9
NM_000179.3:c.3948_3953delinsCC (MSH6) MANE Select NP_000170.1:p.His1317GlnfsTer9
NM_001281492.2:c.3558_3563delinsCC (MSH6) NP_001268421.1:p.His1187GlnfsTer9
NM_001281493.2:c.3042_3047delinsCC (MSH6) NP_001268422.1:p.His1015GlnfsTer9
NM_001281494.2:c.3042_3047delinsCC (MSH6) NP_001268423.1:p.His1015GlnfsTer9