Canonical Allele Identifier: CA2499216098

Linked Data

dbSNP Id: rs2104303587

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798861_47798862del , CM000664.2:g.47798861_47798862del GRCh38
NC_000002.11:g.48026000_48026001del , CM000664.1:g.48026000_48026001del GRCh37
NC_000002.10:g.47879504_47879505del NCBI36
NG_007111.1:g.20715_20716del , LRG_219:g.20715_20716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.581_582del (MSH6) ENSP00000406248.2:p.Pro194ArgfsTer18
ENST00000420813.6:c.581_582del (MSH6) ENSP00000390382.2:p.Pro194ArgfsTer18
ENST00000455383.6:c.581_582del (MSH6) ENSP00000397484.2:p.Pro194ArgfsTer18
ENST00000700004.2:c.878_879del (MSH6) ENSP00000514752.2:p.Pro293ArgfsTer18
ENST00000699999.1:n.962_963del (MSH6)
ENST00000700000.1:c.878_879del (MSH6) ENSP00000514749.1:p.Pro293ArgfsTer18
ENST00000700002.1:c.884_885del (MSH6) ENSP00000514750.1:p.Pro295ArgfsTer18
ENST00000700003.1:c.627+2798_627+2799del (MSH6) ENSP00000514751.1:n.627+2798_627+2799del
ENST00000700004.1:c.35_36del (MSH6) ENSP00000514752.1:p.Pro12ArgfsTer18
ENST00000234420.11:c.878_879del (MSH6) MANE Select ENSP00000234420.5:p.Pro293ArgfsTer18
ENST00000540021.6:c.488_489del (MSH6) ENSP00000446475.1:p.Pro163ArgfsTer18
ENST00000652107.1:c.581_582del (MSH6) ENSP00000498629.1:p.Pro194ArgfsTer18
ENST00000673637.1:c.581_582del (MSH6) ENSP00000501310.1:p.Pro194ArgfsTer18
ENST00000234420.9:c.878_879del (MSH6) ENSP00000234420.4:p.Pro293ArgfsTer18
ENST00000405808.5:c.169+9333_169+9334del (FBXO11) ENSP00000385127.1:n.169+9333_169+9334del
ENST00000434234.5:c.*124+9132_*124+9133del (FBXO11) ENSP00000402692.1:n.*124+9132_*124+9133del
ENST00000445503.5:c.*225_*226del (MSH6) ENSP00000405294.1:n.*225_*226del
ENST00000456246.1:c.*366_*367del (MSH6) ENSP00000410570.1:n.*366_*367del
ENST00000538136.1:c.-29_-28del (MSH6) ENSP00000438580.1:n.-29_-28del
ENST00000540021.5:c.488_489del (MSH6) ENSP00000446475.1:p.Pro163ArgfsTer18
ENST00000614496.4:c.-29_-28del (MSH6) ENSP00000477844.1:n.-29_-28del
ENST00000616033.4:c.875_876del (MSH6) ENSP00000480261.1:p.Pro292ArgfsTer18
ENST00000622629.4:c.-2219_-2218del (MSH6) ENSP00000482078.1:n.-2219_-2218del
NM_000179.2:c.878_879del , LRG_219t1:c.878_879del (MSH6) NP_000170.1:p.Pro293ArgfsTer18
NM_001281492.1:c.488_489del (MSH6) NP_001268421.1:p.Pro163ArgfsTer18
NM_001281493.1:c.-29_-28del (MSH6) NP_001268422.1:n.-29_-28del
NM_001281494.1:c.-29_-28del (MSH6) NP_001268423.1:n.-29_-28del
XM_005264271.1:c.581_582del (MSH6) XP_005264328.1:p.Pro194ArgfsTer18
XM_011532798.1:c.695_696del (MSH6) XP_011531100.1:p.Pro232ArgfsTer18
XM_011532799.1:c.581_582del (MSH6) XP_011531101.1:p.Pro194ArgfsTer18
XM_011532800.1:c.581_582del (MSH6) XP_011531102.1:p.Pro194ArgfsTer18
XM_024452819.1:c.878_879del (MSH6) XP_024308587.1:p.Pro293ArgfsTer18
XM_024452820.1:c.695_696del (MSH6) XP_024308588.1:p.Pro232ArgfsTer18
XM_024452821.1:c.581_582del (MSH6) XP_024308589.1:p.Pro194ArgfsTer18
XM_024452822.1:c.-29_-28del (MSH6) XP_024308590.1:n.-29_-28del
NM_000179.3:c.878_879del (MSH6) MANE Select NP_000170.1:p.Pro293ArgfsTer18
NM_001281492.2:c.488_489del (MSH6) NP_001268421.1:p.Pro163ArgfsTer18
NM_001281493.2:c.-29_-28del (MSH6) NP_001268422.1:n.-29_-28del
NM_001281494.2:c.-29_-28del (MSH6) NP_001268423.1:n.-29_-28del