Canonical Allele Identifier: CA16610870

Linked Data

ClinVar Variation Id: 410523
ClinVar RCV Id: RCV000466552
dbSNP Id: rs1060502941

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798879del , CM000664.2:g.47798879del GRCh38
NC_000002.11:g.48026018del , CM000664.1:g.48026018del GRCh37
NC_000002.10:g.47879522del NCBI36
NG_007111.1:g.20733del , LRG_219:g.20733del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.599del (MSH6) ENSP00000406248.2:p.Lys200SerfsTer6
ENST00000420813.6:c.599del (MSH6) ENSP00000390382.2:p.Lys200SerfsTer6
ENST00000455383.6:c.599del (MSH6) ENSP00000397484.2:p.Lys200SerfsTer6
ENST00000700004.2:c.896del (MSH6) ENSP00000514752.2:p.Lys299SerfsTer6
ENST00000699999.1:n.980del (MSH6)
ENST00000700000.1:c.896del (MSH6) ENSP00000514749.1:p.Lys299SerfsTer6
ENST00000700002.1:c.902del (MSH6) ENSP00000514750.1:p.Lys301SerfsTer6
ENST00000700003.1:c.627+2816del (MSH6) ENSP00000514751.1:n.627+2816del
ENST00000700004.1:c.53del (MSH6) ENSP00000514752.1:p.Lys18SerfsTer6
ENST00000234420.11:c.896del (MSH6) MANE Select ENSP00000234420.5:p.Lys299SerfsTer6
ENST00000540021.6:c.506del (MSH6) ENSP00000446475.1:p.Lys169SerfsTer6
ENST00000652107.1:c.599del (MSH6) ENSP00000498629.1:p.Lys200SerfsTer6
ENST00000673637.1:c.599del (MSH6) ENSP00000501310.1:p.Lys200SerfsTer6
ENST00000234420.9:c.896del (MSH6) ENSP00000234420.4:p.Lys299SerfsTer6
ENST00000405808.5:c.169+9318del (FBXO11) ENSP00000385127.1:n.169+9318del
ENST00000434234.5:c.*124+9117del (FBXO11) ENSP00000402692.1:n.*124+9117del
ENST00000445503.5:c.*243del (MSH6) ENSP00000405294.1:n.*243del
ENST00000456246.1:c.*384del (MSH6) ENSP00000410570.1:n.*384del
ENST00000538136.1:c.-11del (MSH6) ENSP00000438580.1:n.-11del
ENST00000540021.5:c.506del (MSH6) ENSP00000446475.1:p.Lys169SerfsTer6
ENST00000614496.4:c.-11del (MSH6) ENSP00000477844.1:n.-11del
ENST00000616033.4:c.893del (MSH6) ENSP00000480261.1:p.Lys298SerfsTer6
ENST00000622629.4:c.-2201del (MSH6) ENSP00000482078.1:n.-2201del
NM_000179.2:c.896del , LRG_219t1:c.896del (MSH6) NP_000170.1:p.Lys299SerfsTer6
NM_001281492.1:c.506del (MSH6) NP_001268421.1:p.Lys169SerfsTer6
NM_001281493.1:c.-11del (MSH6) NP_001268422.1:n.-11del
NM_001281494.1:c.-11del (MSH6) NP_001268423.1:n.-11del
XM_005264271.1:c.599del (MSH6) XP_005264328.1:p.Lys200SerfsTer6
XM_011532798.1:c.713del (MSH6) XP_011531100.1:p.Lys238SerfsTer6
XM_011532799.1:c.599del (MSH6) XP_011531101.1:p.Lys200SerfsTer6
XM_011532800.1:c.599del (MSH6) XP_011531102.1:p.Lys200SerfsTer6
XM_024452819.1:c.896del (MSH6) XP_024308587.1:p.Lys299SerfsTer6
XM_024452820.1:c.713del (MSH6) XP_024308588.1:p.Lys238SerfsTer6
XM_024452821.1:c.599del (MSH6) XP_024308589.1:p.Lys200SerfsTer6
XM_024452822.1:c.-11del (MSH6) XP_024308590.1:n.-11del
NM_000179.3:c.896del (MSH6) MANE Select NP_000170.1:p.Lys299SerfsTer6
NM_001281492.2:c.506del (MSH6) NP_001268421.1:p.Lys169SerfsTer6
NM_001281493.2:c.-11del (MSH6) NP_001268422.1:n.-11del
NM_001281494.2:c.-11del (MSH6) NP_001268423.1:n.-11del