Canonical Allele Identifier: CA2699321705

Linked Data

dbSNP Id: rs2104547640

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806372_47806376dup , CM000664.2:g.47806372_47806376dup GRCh38
NC_000002.11:g.48033511_48033515dup , CM000664.1:g.48033511_48033515dup GRCh37
NC_000002.10:g.47887015_47887019dup NCBI36
NG_007111.1:g.28226_28230dup , LRG_219:g.28226_28230dup
NG_008397.1:g.104302_104306dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3504+14_3504+18dup (MSH6) ENSP00000406248.2:n.3504+14_3504+18dup
ENST00000420813.6:c.3504+14_3504+18dup (MSH6) ENSP00000390382.2:n.3504+14_3504+18dup
ENST00000455383.6:c.3504+14_3504+18dup (MSH6) ENSP00000397484.2:n.3504+14_3504+18dup
ENST00000700004.2:c.3417+14_3417+18dup (MSH6) ENSP00000514752.2:n.3417+14_3417+18dup
ENST00000699999.1:n.4475+14_4475+18dup (MSH6)
ENST00000700000.1:c.2235+14_2235+18dup (MSH6) ENSP00000514749.1:n.2235+14_2235+18dup
ENST00000700002.1:c.3807+14_3807+18dup (MSH6) ENSP00000514750.1:n.3807+14_3807+18dup
ENST00000700003.1:c.1256+14_1256+18dup (MSH6) ENSP00000514751.1:n.1256+14_1256+18dup
ENST00000700004.1:c.2574+14_2574+18dup (MSH6) ENSP00000514752.1:n.2574+14_2574+18dup
ENST00000700005.1:n.2652+14_2652+18dup (MSH6)
ENST00000700006.1:n.4959+14_4959+18dup (MSH6)
ENST00000700007.1:n.2396+14_2396+18dup (MSH6)
ENST00000700008.1:n.1984_1988dup (MSH6)
ENST00000700009.1:n.2465+14_2465+18dup (MSH6)
ENST00000700010.1:n.1210+14_1210+18dup (MSH6)
ENST00000700011.1:n.3095+14_3095+18dup (MSH6)
ENST00000682451.1:n.4374_4378dup (FBXO11)
ENST00000684712.1:n.4636_4640dup (FBXO11)
ENST00000234420.11:c.3801+14_3801+18dup (MSH6) MANE Select ENSP00000234420.5:n.3801+14_3801+18dup
ENST00000540021.6:c.3411+14_3411+18dup (MSH6) ENSP00000446475.1:n.3411+14_3411+18dup
ENST00000652107.1:c.3504+14_3504+18dup (MSH6) ENSP00000498629.1:n.3504+14_3504+18dup
ENST00000673637.1:c.3504+14_3504+18dup (MSH6) ENSP00000501310.1:n.3504+14_3504+18dup
ENST00000234420.9:c.3801+14_3801+18dup (MSH6) ENSP00000234420.4:n.3801+14_3801+18dup
ENST00000405808.5:c.169+1821_169+1825dup (FBXO11) ENSP00000385127.1:n.169+1821_169+1825dup
ENST00000434234.5:c.*124+1620_*124+1624dup (FBXO11) ENSP00000402692.1:n.*124+1620_*124+1624du...
ENST00000445503.5:c.*3148+14_*3148+18dup (MSH6) ENSP00000405294.1:n.*3148+14_*3148+18dup
ENST00000538136.1:c.2895+14_2895+18dup (MSH6) ENSP00000438580.1:n.2895+14_2895+18dup
ENST00000540021.5:c.3411+14_3411+18dup (MSH6) ENSP00000446475.1:n.3411+14_3411+18dup
ENST00000614496.4:c.2895+14_2895+18dup (MSH6) ENSP00000477844.1:n.2895+14_2895+18dup
ENST00000622629.4:c.702+14_702+18dup (MSH6) ENSP00000482078.1:n.702+14_702+18dup
NM_000179.2:c.3801+14_3801+18dup , LRG_219t1:c.3801+14_3801+18dup (MSH6) NP_000170.1:n.3801+14_3801+18dup
NM_001281492.1:c.3411+14_3411+18dup (MSH6) NP_001268421.1:n.3411+14_3411+18dup
NM_001281493.1:c.2895+14_2895+18dup (MSH6) NP_001268422.1:n.2895+14_2895+18dup
NM_001281494.1:c.2895+14_2895+18dup (MSH6) NP_001268423.1:n.2895+14_2895+18dup
XM_005264271.1:c.3504+14_3504+18dup (MSH6) XP_005264328.1:n.3504+14_3504+18dup
XM_011532798.1:c.3618+14_3618+18dup (MSH6) XP_011531100.1:n.3618+14_3618+18dup
XM_011532799.1:c.3504+14_3504+18dup (MSH6) XP_011531101.1:n.3504+14_3504+18dup
XM_011532800.1:c.3504+14_3504+18dup (MSH6) XP_011531102.1:n.3504+14_3504+18dup
XM_024452819.1:c.3815_3819dup (MSH6) XP_024308587.1:p.Phe1274ValfsTer16
XM_024452820.1:c.3632_3636dup (MSH6) XP_024308588.1:p.Phe1213ValfsTer16
XM_024452821.1:c.3518_3522dup (MSH6) XP_024308589.1:p.Phe1175ValfsTer16
XM_024452822.1:c.2909_2913dup (MSH6) XP_024308590.1:p.Phe972ValfsTer16
NM_000179.3:c.3801+14_3801+18dup (MSH6) MANE Select NP_000170.1:n.3801+14_3801+18dup
NM_001281492.2:c.3411+14_3411+18dup (MSH6) NP_001268421.1:n.3411+14_3411+18dup
NM_001281493.2:c.2895+14_2895+18dup (MSH6) NP_001268422.1:n.2895+14_2895+18dup
NM_001281494.2:c.2895+14_2895+18dup (MSH6) NP_001268423.1:n.2895+14_2895+18dup