Canonical Allele Identifier: CA011798

Linked Data

ClinVar Variation Id: 89349
ClinVar RCV Id: RCV000074814
dbSNP Id: rs63750196

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803429del , CM000664.2:g.47803429del GRCh38
NC_000002.11:g.48030568del , CM000664.1:g.48030568del GRCh37
NC_000002.10:g.47884072del NCBI36
NG_007111.1:g.25283del , LRG_219:g.25283del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2885del (MSH6) ENSP00000406248.2:p.Leu962ArgfsTer18
ENST00000420813.6:c.2885del (MSH6) ENSP00000390382.2:p.Leu962ArgfsTer18
ENST00000455383.6:c.2885del (MSH6) ENSP00000397484.2:p.Leu962ArgfsTer18
ENST00000700004.2:c.3173-2189del (MSH6) ENSP00000514752.2:n.3173-2189del
ENST00000699999.1:n.3266del (MSH6)
ENST00000700000.1:c.1616del (MSH6) ENSP00000514749.1:p.Leu539ArgfsTer18
ENST00000700002.1:c.3188del (MSH6) ENSP00000514750.1:p.Leu1063ArgfsTer18
ENST00000700003.1:c.637del (MSH6) ENSP00000514751.1:p.Cys213ValfsTer4
ENST00000700004.1:c.2330-2189del (MSH6) ENSP00000514752.1:n.2330-2189del
ENST00000700005.1:n.2033del (MSH6)
ENST00000700006.1:n.2030del (MSH6)
ENST00000700007.1:n.1187del (MSH6)
ENST00000700008.1:n.761del (MSH6)
ENST00000700009.1:n.760del (MSH6)
ENST00000700010.1:n.591del (MSH6)
ENST00000700011.1:n.662del (MSH6)
ENST00000234420.11:c.3182del (MSH6) MANE Select ENSP00000234420.5:p.Leu1061ArgfsTer18
ENST00000540021.6:c.2792del (MSH6) ENSP00000446475.1:p.Leu931ArgfsTer18
ENST00000652107.1:c.2885del (MSH6) ENSP00000498629.1:p.Leu962ArgfsTer18
ENST00000673637.1:c.2885del (MSH6) ENSP00000501310.1:p.Leu962ArgfsTer18
ENST00000234420.9:c.3182del (MSH6) ENSP00000234420.4:p.Leu1061ArgfsTer18
ENST00000405808.5:c.169+4766del (FBXO11) ENSP00000385127.1:n.169+4766del
ENST00000434234.5:c.*124+4565del (FBXO11) ENSP00000402692.1:n.*124+4565del
ENST00000445503.5:c.*2529del (MSH6) ENSP00000405294.1:n.*2529del
ENST00000538136.1:c.2276del (MSH6) ENSP00000438580.1:p.Leu759ArgfsTer18
ENST00000540021.5:c.2792del (MSH6) ENSP00000446475.1:p.Leu931ArgfsTer18
ENST00000614496.4:c.2276del (MSH6) ENSP00000477844.1:p.Leu759ArgfsTer18
ENST00000622629.4:c.86del (MSH6) ENSP00000482078.1:p.Leu29ArgfsTer18
NM_000179.2:c.3182del , LRG_219t1:c.3182del (MSH6) NP_000170.1:p.Leu1061ArgfsTer18
NM_001281492.1:c.2792del (MSH6) NP_001268421.1:p.Leu931ArgfsTer18
NM_001281493.1:c.2276del (MSH6) NP_001268422.1:p.Leu759ArgfsTer18
NM_001281494.1:c.2276del (MSH6) NP_001268423.1:p.Leu759ArgfsTer18
XM_005264271.1:c.2885del (MSH6) XP_005264328.1:p.Leu962ArgfsTer18
XM_011532798.1:c.2999del (MSH6) XP_011531100.1:p.Leu1000ArgfsTer18
XM_011532799.1:c.2885del (MSH6) XP_011531101.1:p.Leu962ArgfsTer18
XM_011532800.1:c.2885del (MSH6) XP_011531102.1:p.Leu962ArgfsTer18
XM_024452819.1:c.3182del (MSH6) XP_024308587.1:p.Leu1061ArgfsTer18
XM_024452820.1:c.2999del (MSH6) XP_024308588.1:p.Leu1000ArgfsTer18
XM_024452821.1:c.2885del (MSH6) XP_024308589.1:p.Leu962ArgfsTer18
XM_024452822.1:c.2276del (MSH6) XP_024308590.1:p.Leu759ArgfsTer18
NM_000179.3:c.3182del (MSH6) MANE Select NP_000170.1:p.Leu1061ArgfsTer18
NM_001281492.2:c.2792del (MSH6) NP_001268421.1:p.Leu931ArgfsTer18
NM_001281493.2:c.2276del (MSH6) NP_001268422.1:p.Leu759ArgfsTer18
NM_001281494.2:c.2276del (MSH6) NP_001268423.1:p.Leu759ArgfsTer18