Canonical Allele Identifier: CA2739274449

Linked Data

ClinVar Variation Id: 2824943
ClinVar RCV Id: RCV003761070

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806660_47806767dup , CM000664.2:g.47806660_47806767dup GRCh38
NC_000002.11:g.48033799_48033906dup , CM000664.1:g.48033799_48033906dup GRCh37
NC_000002.10:g.47887303_47887410dup NCBI36
NG_007111.1:g.28514_28621dup , LRG_219:g.28514_28621dup
NG_008397.1:g.103909_104016dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3704+9_3705-12dup (MSH6) ENSP00000406248.2:n.3704+9_3705-12dup
ENST00000420813.6:c.3704+9_3705-12dup (MSH6) ENSP00000390382.2:n.3704+9_3705-12dup
ENST00000455383.6:c.3704+9_3705-12dup (MSH6) ENSP00000397484.2:n.3704+9_3705-12dup
ENST00000700004.2:c.3617+9_3618-12dup (MSH6) ENSP00000514752.2:n.3617+9_3618-12dup
ENST00000699999.1:n.4675+9_4676-12dup (MSH6)
ENST00000700000.1:c.2435+9_2436-12dup (MSH6) ENSP00000514749.1:n.2435+9_2436-12dup
ENST00000700002.1:c.4007+9_4008-12dup (MSH6) ENSP00000514750.1:n.4007+9_4008-12dup
ENST00000700003.1:c.1456+9_1457-12dup (MSH6) ENSP00000514751.1:n.1456+9_1457-12dup
ENST00000700004.1:c.2774+9_2775-12dup (MSH6) ENSP00000514752.1:n.2774+9_2775-12dup
ENST00000700005.1:n.2861_2968dup (MSH6)
ENST00000700007.1:n.2596+9_2597-12dup (MSH6)
ENST00000700008.1:n.2263+9_2264-12dup (MSH6)
ENST00000700009.1:n.2665+9_2666-12dup (MSH6)
ENST00000700010.1:n.1410+9_1411-12dup (MSH6)
ENST00000700011.1:n.3295+9_3296-12dup (MSH6)
ENST00000682451.1:n.3981_4088dup (FBXO11)
ENST00000684712.1:n.4243_4350dup (FBXO11)
ENST00000234420.11:c.4001+9_4002-12dup (MSH6) MANE Select ENSP00000234420.5:n.4001+9_4002-12dup
ENST00000540021.6:c.3611+9_3612-12dup (MSH6) ENSP00000446475.1:n.3611+9_3612-12dup
ENST00000652107.1:c.3704+9_3705-12dup (MSH6) ENSP00000498629.1:n.3704+9_3705-12dup
ENST00000673637.1:c.3704+9_3705-12dup (MSH6) ENSP00000501310.1:n.3704+9_3705-12dup
ENST00000234420.9:c.4001+9_4002-12dup (MSH6) ENSP00000234420.4:n.4001+9_4002-12dup
ENST00000405808.5:c.169+1428_169+1535dup (FBXO11) ENSP00000385127.1:n.169+1428_169+1535dup
ENST00000434234.5:c.*124+1227_*124+1334dup (FBXO11) ENSP00000402692.1:n.*124+1227_*124+1334dup
ENST00000445503.5:c.*3348+9_*3349-12dup (MSH6) ENSP00000405294.1:n.*3348+9_*3349-12dup
ENST00000538136.1:c.3095+9_3096-12dup (MSH6) ENSP00000438580.1:n.3095+9_3096-12dup
ENST00000540021.5:c.3611+9_3612-12dup (MSH6) ENSP00000446475.1:n.3611+9_3612-12dup
ENST00000614496.4:c.3095+9_3096-12dup (MSH6) ENSP00000477844.1:n.3095+9_3096-12dup
ENST00000622629.4:c.902+9_903-12dup (MSH6) ENSP00000482078.1:n.902+9_903-12dup
NM_000179.2:c.4001+9_4002-12dup , LRG_219t1:c.4001+9_4002-12dup (MSH6) NP_000170.1:n.4001+9_4002-12dup
NM_001281492.1:c.3611+9_3612-12dup (MSH6) NP_001268421.1:n.3611+9_3612-12dup
NM_001281493.1:c.3095+9_3096-12dup (MSH6) NP_001268422.1:n.3095+9_3096-12dup
NM_001281494.1:c.3095+9_3096-12dup (MSH6) NP_001268423.1:n.3095+9_3096-12dup
XM_005264271.1:c.3704+9_3705-12dup (MSH6) XP_005264328.1:n.3704+9_3705-12dup
XM_011532798.1:c.3818+9_3819-12dup (MSH6) XP_011531100.1:n.3818+9_3819-12dup
XM_011532799.1:c.3704+9_3705-12dup (MSH6) XP_011531101.1:n.3704+9_3705-12dup
XM_011532800.1:c.3704+9_3705-12dup (MSH6) XP_011531102.1:n.3704+9_3705-12dup
XM_024452819.1:c.4094+9_4095-12dup (MSH6) XP_024308587.1:n.4094+9_4095-12dup
XM_024452820.1:c.3911+9_3912-12dup (MSH6) XP_024308588.1:n.3911+9_3912-12dup
XM_024452821.1:c.3797+9_3798-12dup (MSH6) XP_024308589.1:n.3797+9_3798-12dup
XM_024452822.1:c.3188+9_3189-12dup (MSH6) XP_024308590.1:n.3188+9_3189-12dup
NM_000179.3:c.4001+9_4002-12dup (MSH6) MANE Select NP_000170.1:n.4001+9_4002-12dup
NM_001281492.2:c.3611+9_3612-12dup (MSH6) NP_001268421.1:n.3611+9_3612-12dup
NM_001281493.2:c.3095+9_3096-12dup (MSH6) NP_001268422.1:n.3095+9_3096-12dup
NM_001281494.2:c.3095+9_3096-12dup (MSH6) NP_001268423.1:n.3095+9_3096-12dup