Canonical Allele Identifier: CA10578166

Linked Data

ClinVar Variation Id: 232687
ClinVar RCV Id: RCV003454642
dbSNP Id: rs866771359

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806496dup , CM000664.2:g.47806496dup GRCh38
NC_000002.11:g.48033635dup , CM000664.1:g.48033635dup GRCh37
NC_000002.10:g.47887139dup NCBI36
NG_007111.1:g.28350dup , LRG_219:g.28350dup
NG_008397.1:g.104180dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3549dup (MSH6) ENSP00000406248.2:p.Ile1184TyrfsTer6
ENST00000420813.6:c.3549dup (MSH6) ENSP00000390382.2:p.Ile1184TyrfsTer6
ENST00000455383.6:c.3549dup (MSH6) ENSP00000397484.2:p.Ile1184TyrfsTer6
ENST00000700004.2:c.3462dup (MSH6) ENSP00000514752.2:p.Ile1155TyrfsTer6
ENST00000699999.1:n.4520dup (MSH6)
ENST00000700000.1:c.2280dup (MSH6) ENSP00000514749.1:p.Ile761TyrfsTer6
ENST00000700002.1:c.3852dup (MSH6) ENSP00000514750.1:p.Ile1285TyrfsTer6
ENST00000700003.1:c.1301dup (MSH6) ENSP00000514751.1:n.1301dup
ENST00000700004.1:c.2619dup (MSH6) ENSP00000514752.1:p.Ile874TyrfsTer6
ENST00000700005.1:n.2697dup (MSH6)
ENST00000700006.1:n.5004dup (MSH6)
ENST00000700007.1:n.2441dup (MSH6)
ENST00000700008.1:n.2108dup (MSH6)
ENST00000700009.1:n.2510dup (MSH6)
ENST00000700010.1:n.1255dup (MSH6)
ENST00000700011.1:n.3140dup (MSH6)
ENST00000682451.1:n.4252dup (FBXO11)
ENST00000684712.1:n.4514dup (FBXO11)
ENST00000234420.11:c.3846dup (MSH6) MANE Select ENSP00000234420.5:p.Ile1283TyrfsTer6
ENST00000540021.6:c.3456dup (MSH6) ENSP00000446475.1:p.Ile1153TyrfsTer6
ENST00000652107.1:c.3549dup (MSH6) ENSP00000498629.1:p.Ile1184TyrfsTer6
ENST00000673637.1:c.3549dup (MSH6) ENSP00000501310.1:p.Ile1184TyrfsTer6
ENST00000234420.9:c.3846dup (MSH6) ENSP00000234420.4:p.Ile1283TyrfsTer6
ENST00000405808.5:c.169+1699dup (FBXO11) ENSP00000385127.1:n.169+1699dup
ENST00000434234.5:c.*124+1498dup (FBXO11) ENSP00000402692.1:n.*124+1498dup
ENST00000445503.5:c.*3193dup (MSH6) ENSP00000405294.1:n.*3193dup
ENST00000538136.1:c.2940dup (MSH6) ENSP00000438580.1:p.Ile981TyrfsTer6
ENST00000540021.5:c.3456dup (MSH6) ENSP00000446475.1:p.Ile1153TyrfsTer6
ENST00000614496.4:c.2940dup (MSH6) ENSP00000477844.1:p.Ile981TyrfsTer6
ENST00000622629.4:c.747dup (MSH6) ENSP00000482078.1:p.Ile250TyrfsTer6
NM_000179.2:c.3846dup , LRG_219t1:c.3846dup (MSH6) NP_000170.1:p.Ile1283TyrfsTer6
NM_001281492.1:c.3456dup (MSH6) NP_001268421.1:p.Ile1153TyrfsTer6
NM_001281493.1:c.2940dup (MSH6) NP_001268422.1:p.Ile981TyrfsTer6
NM_001281494.1:c.2940dup (MSH6) NP_001268423.1:p.Ile981TyrfsTer6
XM_005264271.1:c.3549dup (MSH6) XP_005264328.1:p.Ile1184TyrfsTer6
XM_011532798.1:c.3663dup (MSH6) XP_011531100.1:p.Ile1222TyrfsTer6
XM_011532799.1:c.3549dup (MSH6) XP_011531101.1:p.Ile1184TyrfsTer6
XM_011532800.1:c.3549dup (MSH6) XP_011531102.1:p.Ile1184TyrfsTer6
XM_024452819.1:c.3939dup (MSH6) XP_024308587.1:p.Ile1314TyrfsTer6
XM_024452820.1:c.3756dup (MSH6) XP_024308588.1:p.Ile1253TyrfsTer6
XM_024452821.1:c.3642dup (MSH6) XP_024308589.1:p.Ile1215TyrfsTer6
XM_024452822.1:c.3033dup (MSH6) XP_024308590.1:p.Ile1012TyrfsTer6
NM_000179.3:c.3846dup (MSH6) MANE Select NP_000170.1:p.Ile1283TyrfsTer6
NM_001281492.2:c.3456dup (MSH6) NP_001268421.1:p.Ile1153TyrfsTer6
NM_001281493.2:c.2940dup (MSH6) NP_001268422.1:p.Ile981TyrfsTer6
NM_001281494.2:c.2940dup (MSH6) NP_001268423.1:p.Ile981TyrfsTer6