Canonical Allele Identifier: CA2573134781

Linked Data

ClinVar Variation Id: 1614281
ClinVar RCV Id: RCV002173806
dbSNP Id: rs1159569330

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806439_47806441dup , CM000664.2:g.47806439_47806441dup GRCh38
NC_000002.11:g.48033578_48033580dup , CM000664.1:g.48033578_48033580dup GRCh37
NC_000002.10:g.47887082_47887084dup NCBI36
NG_007111.1:g.28293_28295dup , LRG_219:g.28293_28295dup
NG_008397.1:g.104237_104239dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3505-13_3505-11dup (MSH6) ENSP00000406248.2:n.3505-13_3505-11dup
ENST00000420813.6:c.3505-13_3505-11dup (MSH6) ENSP00000390382.2:n.3505-13_3505-11dup
ENST00000455383.6:c.3505-13_3505-11dup (MSH6) ENSP00000397484.2:n.3505-13_3505-11dup
ENST00000700004.2:c.3418-13_3418-11dup (MSH6) ENSP00000514752.2:n.3418-13_3418-11dup
ENST00000699999.1:n.4476-13_4476-11dup (MSH6)
ENST00000700000.1:c.2236-13_2236-11dup (MSH6) ENSP00000514749.1:n.2236-13_2236-11dup
ENST00000700002.1:c.3808-13_3808-11dup (MSH6) ENSP00000514750.1:n.3808-13_3808-11dup
ENST00000700003.1:c.1257-13_1257-11dup (MSH6) ENSP00000514751.1:n.1257-13_1257-11dup
ENST00000700004.1:c.2575-13_2575-11dup (MSH6) ENSP00000514752.1:n.2575-13_2575-11dup
ENST00000700005.1:n.2653-13_2653-11dup (MSH6)
ENST00000700006.1:n.4960-13_4960-11dup (MSH6)
ENST00000700007.1:n.2397-13_2397-11dup (MSH6)
ENST00000700008.1:n.2051_2053dup (MSH6)
ENST00000700009.1:n.2466-13_2466-11dup (MSH6)
ENST00000700010.1:n.1211-13_1211-11dup (MSH6)
ENST00000700011.1:n.3096-13_3096-11dup (MSH6)
ENST00000682451.1:n.4309_4311dup (FBXO11)
ENST00000684712.1:n.4571_4573dup (FBXO11)
ENST00000234420.11:c.3802-13_3802-11dup (MSH6) MANE Select ENSP00000234420.5:n.3802-13_3802-11dup
ENST00000540021.6:c.3412-13_3412-11dup (MSH6) ENSP00000446475.1:n.3412-13_3412-11dup
ENST00000652107.1:c.3505-13_3505-11dup (MSH6) ENSP00000498629.1:n.3505-13_3505-11dup
ENST00000673637.1:c.3505-13_3505-11dup (MSH6) ENSP00000501310.1:n.3505-13_3505-11dup
ENST00000234420.9:c.3802-13_3802-11dup (MSH6) ENSP00000234420.4:n.3802-13_3802-11dup
ENST00000405808.5:c.169+1756_169+1758dup (FBXO11) ENSP00000385127.1:n.169+1756_169+1758dup
ENST00000434234.5:c.*124+1555_*124+1557dup (FBXO11) ENSP00000402692.1:n.*124+1555_*124+1557dup
ENST00000445503.5:c.*3149-13_*3149-11dup (MSH6) ENSP00000405294.1:n.*3149-13_*3149-11dup
ENST00000538136.1:c.2896-13_2896-11dup (MSH6) ENSP00000438580.1:n.2896-13_2896-11dup
ENST00000540021.5:c.3412-13_3412-11dup (MSH6) ENSP00000446475.1:n.3412-13_3412-11dup
ENST00000614496.4:c.2896-13_2896-11dup (MSH6) ENSP00000477844.1:n.2896-13_2896-11dup
ENST00000622629.4:c.703-13_703-11dup (MSH6) ENSP00000482078.1:n.703-13_703-11dup
NM_000179.2:c.3802-13_3802-11dup , LRG_219t1:c.3802-13_3802-11dup (MSH6) NP_000170.1:n.3802-13_3802-11dup
NM_001281492.1:c.3412-13_3412-11dup (MSH6) NP_001268421.1:n.3412-13_3412-11dup
NM_001281493.1:c.2896-13_2896-11dup (MSH6) NP_001268422.1:n.2896-13_2896-11dup
NM_001281494.1:c.2896-13_2896-11dup (MSH6) NP_001268423.1:n.2896-13_2896-11dup
XM_005264271.1:c.3505-13_3505-11dup (MSH6) XP_005264328.1:n.3505-13_3505-11dup
XM_011532798.1:c.3619-13_3619-11dup (MSH6) XP_011531100.1:n.3619-13_3619-11dup
XM_011532799.1:c.3505-13_3505-11dup (MSH6) XP_011531101.1:n.3505-13_3505-11dup
XM_011532800.1:c.3505-13_3505-11dup (MSH6) XP_011531102.1:n.3505-13_3505-11dup
XM_024452819.1:c.3882_3884dup (MSH6) XP_024308587.1:p.Phe1295_Phe1296insPhe
XM_024452820.1:c.3699_3701dup (MSH6) XP_024308588.1:p.Phe1234_Phe1235insPhe
XM_024452821.1:c.3585_3587dup (MSH6) XP_024308589.1:p.Phe1196_Phe1197insPhe
XM_024452822.1:c.2976_2978dup (MSH6) XP_024308590.1:p.Phe993_Phe994insPhe
NM_000179.3:c.3802-13_3802-11dup (MSH6) MANE Select NP_000170.1:n.3802-13_3802-11dup
NM_001281492.2:c.3412-13_3412-11dup (MSH6) NP_001268421.1:n.3412-13_3412-11dup
NM_001281493.2:c.2896-13_2896-11dup (MSH6) NP_001268422.1:n.2896-13_2896-11dup
NM_001281494.2:c.2896-13_2896-11dup (MSH6) NP_001268423.1:n.2896-13_2896-11dup