Canonical Allele Identifier: CA2739274386

Linked Data

ClinVar Variation Id: 2884267
ClinVar RCV Id: RCV003759617

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806446_47806448dup , CM000664.2:g.47806446_47806448dup GRCh38
NC_000002.11:g.48033585_48033587dup , CM000664.1:g.48033585_48033587dup GRCh37
NC_000002.10:g.47887089_47887091dup NCBI36
NG_007111.1:g.28300_28302dup , LRG_219:g.28300_28302dup
NG_008397.1:g.104230_104232dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3505-6_3505-4dup (MSH6) ENSP00000406248.2:n.3505-6_3505-4dup
ENST00000420813.6:c.3505-6_3505-4dup (MSH6) ENSP00000390382.2:n.3505-6_3505-4dup
ENST00000455383.6:c.3505-6_3505-4dup (MSH6) ENSP00000397484.2:n.3505-6_3505-4dup
ENST00000700004.2:c.3418-6_3418-4dup (MSH6) ENSP00000514752.2:n.3418-6_3418-4dup
ENST00000699999.1:n.4476-6_4476-4dup (MSH6)
ENST00000700000.1:c.2236-6_2236-4dup (MSH6) ENSP00000514749.1:n.2236-6_2236-4dup
ENST00000700002.1:c.3808-6_3808-4dup (MSH6) ENSP00000514750.1:n.3808-6_3808-4dup
ENST00000700003.1:c.1257-6_1257-4dup (MSH6) ENSP00000514751.1:n.1257-6_1257-4dup
ENST00000700004.1:c.2575-6_2575-4dup (MSH6) ENSP00000514752.1:n.2575-6_2575-4dup
ENST00000700005.1:n.2653-6_2653-4dup (MSH6)
ENST00000700006.1:n.4960-6_4960-4dup (MSH6)
ENST00000700007.1:n.2397-6_2397-4dup (MSH6)
ENST00000700008.1:n.2058_2060dup (MSH6)
ENST00000700009.1:n.2466-6_2466-4dup (MSH6)
ENST00000700010.1:n.1211-6_1211-4dup (MSH6)
ENST00000700011.1:n.3096-6_3096-4dup (MSH6)
ENST00000682451.1:n.4302_4304dup (FBXO11)
ENST00000684712.1:n.4564_4566dup (FBXO11)
ENST00000234420.11:c.3802-6_3802-4dup (MSH6) MANE Select ENSP00000234420.5:n.3802-6_3802-4dup
ENST00000540021.6:c.3412-6_3412-4dup (MSH6) ENSP00000446475.1:n.3412-6_3412-4dup
ENST00000652107.1:c.3505-6_3505-4dup (MSH6) ENSP00000498629.1:n.3505-6_3505-4dup
ENST00000673637.1:c.3505-6_3505-4dup (MSH6) ENSP00000501310.1:n.3505-6_3505-4dup
ENST00000234420.9:c.3802-6_3802-4dup (MSH6) ENSP00000234420.4:n.3802-6_3802-4dup
ENST00000405808.5:c.169+1749_169+1751dup (FBXO11) ENSP00000385127.1:n.169+1749_169+1751dup
ENST00000434234.5:c.*124+1548_*124+1550dup (FBXO11) ENSP00000402692.1:n.*124+1548_*124+1550dup
ENST00000445503.5:c.*3149-6_*3149-4dup (MSH6) ENSP00000405294.1:n.*3149-6_*3149-4dup
ENST00000538136.1:c.2896-6_2896-4dup (MSH6) ENSP00000438580.1:n.2896-6_2896-4dup
ENST00000540021.5:c.3412-6_3412-4dup (MSH6) ENSP00000446475.1:n.3412-6_3412-4dup
ENST00000614496.4:c.2896-6_2896-4dup (MSH6) ENSP00000477844.1:n.2896-6_2896-4dup
ENST00000622629.4:c.703-6_703-4dup (MSH6) ENSP00000482078.1:n.703-6_703-4dup
NM_000179.2:c.3802-6_3802-4dup , LRG_219t1:c.3802-6_3802-4dup (MSH6) NP_000170.1:n.3802-6_3802-4dup
NM_001281492.1:c.3412-6_3412-4dup (MSH6) NP_001268421.1:n.3412-6_3412-4dup
NM_001281493.1:c.2896-6_2896-4dup (MSH6) NP_001268422.1:n.2896-6_2896-4dup
NM_001281494.1:c.2896-6_2896-4dup (MSH6) NP_001268423.1:n.2896-6_2896-4dup
XM_005264271.1:c.3505-6_3505-4dup (MSH6) XP_005264328.1:n.3505-6_3505-4dup
XM_011532798.1:c.3619-6_3619-4dup (MSH6) XP_011531100.1:n.3619-6_3619-4dup
XM_011532799.1:c.3505-6_3505-4dup (MSH6) XP_011531101.1:n.3505-6_3505-4dup
XM_011532800.1:c.3505-6_3505-4dup (MSH6) XP_011531102.1:n.3505-6_3505-4dup
XM_024452819.1:c.3889_3891dup (MSH6) XP_024308587.1:p.Leu1297_Lys1298insLeu
XM_024452820.1:c.3706_3708dup (MSH6) XP_024308588.1:p.Leu1236_Lys1237insLeu
XM_024452821.1:c.3592_3594dup (MSH6) XP_024308589.1:p.Leu1198_Lys1199insLeu
XM_024452822.1:c.2983_2985dup (MSH6) XP_024308590.1:p.Leu995_Lys996insLeu
NM_000179.3:c.3802-6_3802-4dup (MSH6) MANE Select NP_000170.1:n.3802-6_3802-4dup
NM_001281492.2:c.3412-6_3412-4dup (MSH6) NP_001268421.1:n.3412-6_3412-4dup
NM_001281493.2:c.2896-6_2896-4dup (MSH6) NP_001268422.1:n.2896-6_2896-4dup
NM_001281494.2:c.2896-6_2896-4dup (MSH6) NP_001268423.1:n.2896-6_2896-4dup