Canonical Allele Identifier: CA16617640

Linked Data

ClinVar Variation Id: 418321
dbSNP Id: rs1064793185

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798935_47798945del , CM000664.2:g.47798935_47798945del GRCh38
NC_000002.11:g.48026074_48026084del , CM000664.1:g.48026074_48026084del GRCh37
NC_000002.10:g.47879578_47879588del NCBI36
NG_007111.1:g.20789_20799del , LRG_219:g.20789_20799del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.655_665del (MSH6) ENSP00000406248.2:p.Glu219SerfsTer7
ENST00000420813.6:c.655_665del (MSH6) ENSP00000390382.2:p.Glu219SerfsTer7
ENST00000455383.6:c.655_665del (MSH6) ENSP00000397484.2:p.Glu219SerfsTer7
ENST00000700004.2:c.952_962del (MSH6) ENSP00000514752.2:p.Glu318SerfsTer7
ENST00000699999.1:n.1036_1046del (MSH6)
ENST00000700000.1:c.952_962del (MSH6) ENSP00000514749.1:p.Glu318SerfsTer7
ENST00000700002.1:c.958_968del (MSH6) ENSP00000514750.1:p.Glu320SerfsTer7
ENST00000700003.1:c.627+2872_627+2882del (MSH6) ENSP00000514751.1:n.627+2872_627+2882del
ENST00000700004.1:c.109_119del (MSH6) ENSP00000514752.1:p.Glu37SerfsTer7
ENST00000234420.11:c.952_962del (MSH6) MANE Select ENSP00000234420.5:p.Glu318SerfsTer7
ENST00000540021.6:c.562_572del (MSH6) ENSP00000446475.1:p.Glu188SerfsTer7
ENST00000652107.1:c.655_665del (MSH6) ENSP00000498629.1:p.Glu219SerfsTer7
ENST00000673637.1:c.655_665del (MSH6) ENSP00000501310.1:p.Glu219SerfsTer7
ENST00000234420.9:c.952_962del (MSH6) ENSP00000234420.4:p.Glu318SerfsTer7
ENST00000405808.5:c.169+9250_169+9260del (FBXO11) ENSP00000385127.1:n.169+9250_169+9260del
ENST00000434234.5:c.*124+9049_*124+9059del (FBXO11) ENSP00000402692.1:n.*124+9049_*124+9059de...
ENST00000445503.5:c.*299_*309del (MSH6) ENSP00000405294.1:n.*299_*309del
ENST00000538136.1:c.46_56del (MSH6) ENSP00000438580.1:p.Glu16SerfsTer7
ENST00000540021.5:c.562_572del (MSH6) ENSP00000446475.1:p.Glu188SerfsTer7
ENST00000614496.4:c.46_56del (MSH6) ENSP00000477844.1:p.Glu16SerfsTer7
ENST00000616033.4:c.949_959del (MSH6) ENSP00000480261.1:p.Glu317SerfsTer7
ENST00000622629.4:c.-2145_-2135del (MSH6) ENSP00000482078.1:n.-2145_-2135del
NM_000179.2:c.952_962del , LRG_219t1:c.952_962del (MSH6) NP_000170.1:p.Glu318SerfsTer7
NM_001281492.1:c.562_572del (MSH6) NP_001268421.1:p.Glu188SerfsTer7
NM_001281493.1:c.46_56del (MSH6) NP_001268422.1:p.Glu16SerfsTer7
NM_001281494.1:c.46_56del (MSH6) NP_001268423.1:p.Glu16SerfsTer7
XM_005264271.1:c.655_665del (MSH6) XP_005264328.1:p.Glu219SerfsTer7
XM_011532798.1:c.769_779del (MSH6) XP_011531100.1:p.Glu257SerfsTer7
XM_011532799.1:c.655_665del (MSH6) XP_011531101.1:p.Glu219SerfsTer7
XM_011532800.1:c.655_665del (MSH6) XP_011531102.1:p.Glu219SerfsTer7
XM_024452819.1:c.952_962del (MSH6) XP_024308587.1:p.Glu318SerfsTer7
XM_024452820.1:c.769_779del (MSH6) XP_024308588.1:p.Glu257SerfsTer7
XM_024452821.1:c.655_665del (MSH6) XP_024308589.1:p.Glu219SerfsTer7
XM_024452822.1:c.46_56del (MSH6) XP_024308590.1:p.Glu16SerfsTer7
NM_000179.3:c.952_962del (MSH6) MANE Select NP_000170.1:p.Glu318SerfsTer7
NM_001281492.2:c.562_572del (MSH6) NP_001268421.1:p.Glu188SerfsTer7
NM_001281493.2:c.46_56del (MSH6) NP_001268422.1:p.Glu16SerfsTer7
NM_001281494.2:c.46_56del (MSH6) NP_001268423.1:p.Glu16SerfsTer7