Canonical Allele Identifier: CA2573134816

Linked Data

ClinVar Variation Id: 1684901
ClinVar RCV Id: RCV002247993
dbSNP Id: rs2104585775

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806851_47806897dup , CM000664.2:g.47806851_47806897dup GRCh38
NC_000002.11:g.48033990_48034036dup , CM000664.1:g.48033990_48034036dup GRCh37
NC_000002.10:g.47887494_47887540dup NCBI36
NG_007111.1:g.28705_28751dup , LRG_219:g.28705_28751dup
NG_008397.1:g.103780_103826dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3777_*37dup (MSH6) ENSP00000406248.2:n.3777_*37dup
ENST00000420813.6:c.3777_*37dup (MSH6) ENSP00000390382.2:n.3777_*37dup
ENST00000455383.6:c.3777_*37dup (MSH6) ENSP00000397484.2:n.3777_*37dup
ENST00000700004.2:c.3690_*37dup (MSH6) ENSP00000514752.2:n.3690_*37dup
ENST00000699999.1:n.4748_4794dup (MSH6)
ENST00000700000.1:c.2508_*37dup (MSH6) ENSP00000514749.1:n.2508_*37dup
ENST00000700002.1:c.4080_*37dup (MSH6) ENSP00000514750.1:n.4080_*37dup
ENST00000700003.1:c.1529_1575dup (MSH6) ENSP00000514751.1:n.1529_1575dup
ENST00000700004.1:c.2847_2893dup (MSH6) ENSP00000514752.1:n.2847_2893dup
ENST00000700007.1:n.2669_2715dup (MSH6)
ENST00000700008.1:n.2336_2382dup (MSH6)
ENST00000700009.1:n.2738_2784dup (MSH6)
ENST00000700010.1:n.1483_1529dup (MSH6)
ENST00000700011.1:n.3368_3414dup (MSH6)
ENST00000682451.1:n.3852_3898dup (FBXO11)
ENST00000684712.1:n.4114_4160dup (FBXO11)
ENST00000234420.11:c.4074_*37dup (MSH6) MANE Select ENSP00000234420.5:n.4074_*37dup
ENST00000540021.6:c.3684_*37dup (MSH6) ENSP00000446475.1:n.3684_*37dup
ENST00000652107.1:c.3777_*37dup (MSH6) ENSP00000498629.1:n.3777_*37dup
ENST00000673637.1:c.3777_*37dup (MSH6) ENSP00000501310.1:n.3777_*37dup
ENST00000234420.9:c.4074_*37dup (MSH6) ENSP00000234420.4:n.4074_*37dup
ENST00000405808.5:c.169+1299_169+1345dup (FBXO11) ENSP00000385127.1:n.169+1299_169+1345dup
ENST00000434234.5:c.*124+1098_*124+1144dup (FBXO11) ENSP00000402692.1:n.*124+1098_*124+1144dup
ENST00000445503.5:c.*3421_*3467dup (MSH6) ENSP00000405294.1:n.*3421_*3467dup
ENST00000465204.5:n.3014_3060dup (FBXO11)
ENST00000538136.1:c.3168_*37dup (MSH6) ENSP00000438580.1:n.3168_*37dup
ENST00000540021.5:c.3684_*37dup (MSH6) ENSP00000446475.1:n.3684_*37dup
ENST00000614496.4:c.3168_*37dup (MSH6) ENSP00000477844.1:n.3168_*37dup
ENST00000622629.4:c.975_*37dup (MSH6) ENSP00000482078.1:n.975_*37dup
NM_000179.2:c.4074_*37dup , LRG_219t1:c.4074_*37dup (MSH6) NP_000170.1:n.4074_*37dup
NM_001281492.1:c.3684_*37dup (MSH6) NP_001268421.1:n.3684_*37dup
NM_001281493.1:c.3168_*37dup (MSH6) NP_001268422.1:n.3168_*37dup
NM_001281494.1:c.3168_*37dup (MSH6) NP_001268423.1:n.3168_*37dup
XM_005264271.1:c.3777_*37dup (MSH6) XP_005264328.1:n.3777_*37dup
XM_011532798.1:c.3891_*37dup (MSH6) XP_011531100.1:n.3891_*37dup
XM_011532799.1:c.3777_*37dup (MSH6) XP_011531101.1:n.3777_*37dup
XM_011532800.1:c.3777_*37dup (MSH6) XP_011531102.1:n.3777_*37dup
XM_024452819.1:c.4167_*37dup (MSH6) XP_024308587.1:n.4167_*37dup
XM_024452820.1:c.3984_*37dup (MSH6) XP_024308588.1:n.3984_*37dup
XM_024452821.1:c.3870_*37dup (MSH6) XP_024308589.1:n.3870_*37dup
XM_024452822.1:c.3261_*37dup (MSH6) XP_024308590.1:n.3261_*37dup
NM_000179.3:c.4074_*37dup (MSH6) MANE Select NP_000170.1:n.4074_*37dup
NM_001281492.2:c.3684_*37dup (MSH6) NP_001268421.1:n.3684_*37dup
NM_001281493.2:c.3168_*37dup (MSH6) NP_001268422.1:n.3168_*37dup
NM_001281494.2:c.3168_*37dup (MSH6) NP_001268423.1:n.3168_*37dup