Canonical Allele Identifier: CA2695200721

Linked Data

ClinVar Variation Id: 2673658
ClinVar RCV Id: RCV003450295

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47790968_47790971dup , CM000664.2:g.47790968_47790971dup GRCh38
NC_000002.11:g.48018107_48018110dup , CM000664.1:g.48018107_48018110dup GRCh37
NC_000002.10:g.47871611_47871614dup NCBI36
NG_007111.1:g.12822_12825dup , LRG_219:g.12822_12825dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.5_8dup (MSH6) ENSP00000406248.2:p.Tyr4GlyfsTer15
ENST00000420813.6:c.5_8dup (MSH6) ENSP00000390382.2:p.Tyr4GlyfsTer15
ENST00000455383.6:c.5_8dup (MSH6) ENSP00000397484.2:p.Tyr4GlyfsTer15
ENST00000700004.2:c.302_305dup (MSH6) ENSP00000514752.2:p.Tyr103GlyfsTer15
ENST00000699999.1:n.386_389dup (MSH6)
ENST00000700000.1:c.302_305dup (MSH6) ENSP00000514749.1:p.Tyr103GlyfsTer15
ENST00000700001.1:n.374_377dup (MSH6)
ENST00000700002.1:c.302_305dup (MSH6) ENSP00000514750.1:p.Tyr103GlyfsTer15
ENST00000700003.1:c.302_305dup (MSH6) ENSP00000514751.1:p.Tyr103GlyfsTer15
ENST00000234420.11:c.302_305dup (MSH6) MANE Select ENSP00000234420.5:p.Tyr103GlyfsTer15
ENST00000540021.6:c.237+7498_237+7501dup (MSH6) ENSP00000446475.1:n.237+7498_237+7501dup
ENST00000652107.1:c.5_8dup (MSH6) ENSP00000498629.1:p.Tyr4GlyfsTer15
ENST00000673637.1:c.5_8dup (MSH6) ENSP00000501310.1:p.Tyr4GlyfsTer15
ENST00000673922.1:n.349+7475_349+7478dup (MSH6)
ENST00000234420.9:c.302_305dup (MSH6) ENSP00000234420.4:p.Tyr103GlyfsTer15
ENST00000405808.5:c.170-1529_170-1526dup (FBXO11) ENSP00000385127.1:n.170-1529_170-1526dup
ENST00000411819.1:c.5_8dup (MSH6) ENSP00000406248.1:p.Tyr4GlyfsTer15
ENST00000420813.5:c.5_8dup (MSH6) ENSP00000390382.1:p.Tyr4GlyfsTer15
ENST00000434234.5:c.*125-1529_*125-1526dup (FBXO11) ENSP00000402692.1:n.*125-1529_*125-1526du...
ENST00000445503.5:c.302_305dup (MSH6) ENSP00000405294.1:p.Tyr103GlyfsTer15
ENST00000455383.5:c.5_8dup (MSH6) ENSP00000397484.1:p.Tyr4GlyfsTer15
ENST00000456246.1:c.261-4926_261-4923dup (MSH6) ENSP00000410570.1:n.261-4926_261-4923dup
ENST00000538136.1:c.-601_-598dup (MSH6) ENSP00000438580.1:n.-601_-598dup
ENST00000540021.5:c.237+7498_237+7501dup (MSH6) ENSP00000446475.1:n.237+7498_237+7501dup
ENST00000606499.1:c.5_8dup (MSH6) ENSP00000475605.1:p.Tyr4GlyfsTer15
ENST00000614496.4:c.-435_-432dup (MSH6) ENSP00000477844.1:n.-435_-432dup
ENST00000616033.4:c.299_302dup (MSH6) ENSP00000480261.1:p.Tyr102GlyfsTer15
ENST00000622629.4:c.-2795_-2792dup (MSH6) ENSP00000482078.1:n.-2795_-2792dup
NM_000179.2:c.302_305dup , LRG_219t1:c.302_305dup (MSH6) NP_000170.1:p.Tyr103GlyfsTer15
NM_001281492.1:c.237+7498_237+7501dup (MSH6) NP_001268421.1:n.237+7498_237+7501dup
NM_001281493.1:c.-435_-432dup (MSH6) NP_001268422.1:n.-435_-432dup
NM_001281494.1:c.-601_-598dup (MSH6) NP_001268423.1:n.-601_-598dup
XM_005264271.1:c.5_8dup (MSH6) XP_005264328.1:p.Tyr4GlyfsTer15
XM_011532798.1:c.119_122dup (MSH6) XP_011531100.1:p.Tyr42GlyfsTer15
XM_011532799.1:c.5_8dup (MSH6) XP_011531101.1:p.Tyr4GlyfsTer15
XM_011532800.1:c.5_8dup (MSH6) XP_011531102.1:p.Tyr4GlyfsTer15
XM_024452819.1:c.302_305dup (MSH6) XP_024308587.1:p.Tyr103GlyfsTer15
XM_024452820.1:c.119_122dup (MSH6) XP_024308588.1:p.Tyr42GlyfsTer15
XM_024452821.1:c.5_8dup (MSH6) XP_024308589.1:p.Tyr4GlyfsTer15
XM_024452822.1:c.-435_-432dup (MSH6) XP_024308590.1:n.-435_-432dup
NM_000179.3:c.302_305dup (MSH6) MANE Select NP_000170.1:p.Tyr103GlyfsTer15
NM_001281492.2:c.237+7498_237+7501dup (MSH6) NP_001268421.1:n.237+7498_237+7501dup
NM_001281493.2:c.-435_-432dup (MSH6) NP_001268422.1:n.-435_-432dup
NM_001281494.2:c.-601_-598dup (MSH6) NP_001268423.1:n.-601_-598dup