Canonical Allele Identifier: CA2697548138

Linked Data

ClinVar Variation Id: 2773673
ClinVar RCV Id: RCV003585646

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806654_47806664dup , CM000664.2:g.47806654_47806664dup GRCh38
NC_000002.11:g.48033793_48033803dup , CM000664.1:g.48033793_48033803dup GRCh37
NC_000002.10:g.47887297_47887307dup NCBI36
NG_007111.1:g.28508_28518dup , LRG_219:g.28508_28518dup
NG_008397.1:g.104012_104022dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3704+3_3704+13dup (MSH6) ENSP00000406248.2:n.3704+3_3704+13dup
ENST00000420813.6:c.3704+3_3704+13dup (MSH6) ENSP00000390382.2:n.3704+3_3704+13dup
ENST00000455383.6:c.3704+3_3704+13dup (MSH6) ENSP00000397484.2:n.3704+3_3704+13dup
ENST00000700004.2:c.3617+3_3617+13dup (MSH6) ENSP00000514752.2:n.3617+3_3617+13dup
ENST00000699999.1:n.4675+3_4675+13dup (MSH6)
ENST00000700000.1:c.2435+3_2435+13dup (MSH6) ENSP00000514749.1:n.2435+3_2435+13dup
ENST00000700002.1:c.4007+3_4007+13dup (MSH6) ENSP00000514750.1:n.4007+3_4007+13dup
ENST00000700003.1:c.1456+3_1456+13dup (MSH6) ENSP00000514751.1:n.1456+3_1456+13dup
ENST00000700004.1:c.2774+3_2774+13dup (MSH6) ENSP00000514752.1:n.2774+3_2774+13dup
ENST00000700005.1:n.2855_2865dup (MSH6)
ENST00000700006.1:n.5162_5172dup (MSH6)
ENST00000700007.1:n.2596+3_2596+13dup (MSH6)
ENST00000700008.1:n.2263+3_2263+13dup (MSH6)
ENST00000700009.1:n.2665+3_2665+13dup (MSH6)
ENST00000700010.1:n.1410+3_1410+13dup (MSH6)
ENST00000700011.1:n.3295+3_3295+13dup (MSH6)
ENST00000682451.1:n.4084_4094dup (FBXO11)
ENST00000684712.1:n.4346_4356dup (FBXO11)
ENST00000234420.11:c.4001+3_4001+13dup (MSH6) MANE Select ENSP00000234420.5:n.4001+3_4001+13dup
ENST00000540021.6:c.3611+3_3611+13dup (MSH6) ENSP00000446475.1:n.3611+3_3611+13dup
ENST00000652107.1:c.3704+3_3704+13dup (MSH6) ENSP00000498629.1:n.3704+3_3704+13dup
ENST00000673637.1:c.3704+3_3704+13dup (MSH6) ENSP00000501310.1:n.3704+3_3704+13dup
ENST00000234420.9:c.4001+3_4001+13dup (MSH6) ENSP00000234420.4:n.4001+3_4001+13dup
ENST00000405808.5:c.169+1531_169+1541dup (FBXO11) ENSP00000385127.1:n.169+1531_169+1541dup
ENST00000434234.5:c.*124+1330_*124+1340dup (FBXO11) ENSP00000402692.1:n.*124+1330_*124+1340dup
ENST00000445503.5:c.*3348+3_*3348+13dup (MSH6) ENSP00000405294.1:n.*3348+3_*3348+13dup
ENST00000538136.1:c.3095+3_3095+13dup (MSH6) ENSP00000438580.1:n.3095+3_3095+13dup
ENST00000540021.5:c.3611+3_3611+13dup (MSH6) ENSP00000446475.1:n.3611+3_3611+13dup
ENST00000614496.4:c.3095+3_3095+13dup (MSH6) ENSP00000477844.1:n.3095+3_3095+13dup
ENST00000622629.4:c.902+3_902+13dup (MSH6) ENSP00000482078.1:n.902+3_902+13dup
NM_000179.2:c.4001+3_4001+13dup , LRG_219t1:c.4001+3_4001+13dup (MSH6) NP_000170.1:n.4001+3_4001+13dup
NM_001281492.1:c.3611+3_3611+13dup (MSH6) NP_001268421.1:n.3611+3_3611+13dup
NM_001281493.1:c.3095+3_3095+13dup (MSH6) NP_001268422.1:n.3095+3_3095+13dup
NM_001281494.1:c.3095+3_3095+13dup (MSH6) NP_001268423.1:n.3095+3_3095+13dup
XM_005264271.1:c.3704+3_3704+13dup (MSH6) XP_005264328.1:n.3704+3_3704+13dup
XM_011532798.1:c.3818+3_3818+13dup (MSH6) XP_011531100.1:n.3818+3_3818+13dup
XM_011532799.1:c.3704+3_3704+13dup (MSH6) XP_011531101.1:n.3704+3_3704+13dup
XM_011532800.1:c.3704+3_3704+13dup (MSH6) XP_011531102.1:n.3704+3_3704+13dup
XM_024452819.1:c.4094+3_4094+13dup (MSH6) XP_024308587.1:n.4094+3_4094+13dup
XM_024452820.1:c.3911+3_3911+13dup (MSH6) XP_024308588.1:n.3911+3_3911+13dup
XM_024452821.1:c.3797+3_3797+13dup (MSH6) XP_024308589.1:n.3797+3_3797+13dup
XM_024452822.1:c.3188+3_3188+13dup (MSH6) XP_024308590.1:n.3188+3_3188+13dup
NM_000179.3:c.4001+3_4001+13dup (MSH6) MANE Select NP_000170.1:n.4001+3_4001+13dup
NM_001281492.2:c.3611+3_3611+13dup (MSH6) NP_001268421.1:n.3611+3_3611+13dup
NM_001281493.2:c.3095+3_3095+13dup (MSH6) NP_001268422.1:n.3095+3_3095+13dup
NM_001281494.2:c.3095+3_3095+13dup (MSH6) NP_001268423.1:n.3095+3_3095+13dup