Canonical Allele Identifier: CA2825001140

Linked Data

ClinVar Variation Id: 3074414
ClinVar RCV Id: RCV004013948

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806568_47806569delinsAGAT , CM000664.2:g.47806568_47806569delinsAGAT GRCh38
NC_000002.11:g.48033707_48033708delinsAGAT , CM000664.1:g.48033707_48033708delinsAGAT GRCh37
NC_000002.10:g.47887211_47887212delinsAGAT NCBI36
NG_007111.1:g.28422_28423delinsAGAT , LRG_219:g.28422_28423delinsAGAT
NG_008397.1:g.104107_104108delinsATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3621_3622delinsAGAT (MSH6) ENSP00000406248.2:p.Asn1208AspfsTer21
ENST00000420813.6:c.3621_3622delinsAGAT (MSH6) ENSP00000390382.2:p.Asn1208AspfsTer21
ENST00000455383.6:c.3621_3622delinsAGAT (MSH6) ENSP00000397484.2:p.Asn1208AspfsTer21
ENST00000700004.2:c.3534_3535delinsAGAT (MSH6) ENSP00000514752.2:p.Asn1179AspfsTer21
ENST00000699999.1:n.4592_4593delinsAGAT (MSH6)
ENST00000700000.1:c.2352_2353delinsAGAT (MSH6) ENSP00000514749.1:p.Asn785AspfsTer21
ENST00000700002.1:c.3924_3925delinsAGAT (MSH6) ENSP00000514750.1:p.Asn1309AspfsTer21
ENST00000700003.1:c.1373_1374delinsAGAT (MSH6) ENSP00000514751.1:n.1373_1374delinsAGAT
ENST00000700004.1:c.2691_2692delinsAGAT (MSH6) ENSP00000514752.1:p.Asn898AspfsTer21
ENST00000700005.1:n.2769_2770delinsAGAT (MSH6)
ENST00000700006.1:n.5076_5077delinsAGAT (MSH6)
ENST00000700007.1:n.2513_2514delinsAGAT (MSH6)
ENST00000700008.1:n.2180_2181delinsAGAT (MSH6)
ENST00000700009.1:n.2582_2583delinsAGAT (MSH6)
ENST00000700010.1:n.1327_1328delinsAGAT (MSH6)
ENST00000700011.1:n.3212_3213delinsAGAT (MSH6)
ENST00000682451.1:n.4179_4180delinsATCT (FBXO11)
ENST00000684712.1:n.4441_4442delinsATCT (FBXO11)
ENST00000234420.11:c.3918_3919delinsAGAT (MSH6) MANE Select ENSP00000234420.5:p.Asn1307AspfsTer21
ENST00000540021.6:c.3528_3529delinsAGAT (MSH6) ENSP00000446475.1:p.Asn1177AspfsTer21
ENST00000652107.1:c.3621_3622delinsAGAT (MSH6) ENSP00000498629.1:p.Asn1208AspfsTer21
ENST00000673637.1:c.3621_3622delinsAGAT (MSH6) ENSP00000501310.1:p.Asn1208AspfsTer21
ENST00000234420.9:c.3918_3919delinsAGAT (MSH6) ENSP00000234420.4:p.Asn1307AspfsTer21
ENST00000405808.5:c.169+1626_169+1627delinsATCT (FBXO11) ENSP00000385127.1:n.169+1626_169+1627delinsATCT
ENST00000434234.5:c.*124+1425_*124+1426delinsATCT (FBXO11) ENSP00000402692.1:n.*124+1425_*124+1426delinsATCT
ENST00000445503.5:c.*3265_*3266delinsAGAT (MSH6) ENSP00000405294.1:n.*3265_*3266delinsAGAT
ENST00000538136.1:c.3012_3013delinsAGAT (MSH6) ENSP00000438580.1:p.Asn1005AspfsTer21
ENST00000540021.5:c.3528_3529delinsAGAT (MSH6) ENSP00000446475.1:p.Asn1177AspfsTer21
ENST00000614496.4:c.3012_3013delinsAGAT (MSH6) ENSP00000477844.1:p.Asn1005AspfsTer21
ENST00000622629.4:c.819_820delinsAGAT (MSH6) ENSP00000482078.1:p.Asn274AspfsTer21
NM_000179.2:c.3918_3919delinsAGAT , LRG_219t1:c.3918_3919delinsAGAT (MSH6) NP_000170.1:p.Asn1307AspfsTer21
NM_001281492.1:c.3528_3529delinsAGAT (MSH6) NP_001268421.1:p.Asn1177AspfsTer21
NM_001281493.1:c.3012_3013delinsAGAT (MSH6) NP_001268422.1:p.Asn1005AspfsTer21
NM_001281494.1:c.3012_3013delinsAGAT (MSH6) NP_001268423.1:p.Asn1005AspfsTer21
XM_005264271.1:c.3621_3622delinsAGAT (MSH6) XP_005264328.1:p.Asn1208AspfsTer21
XM_011532798.1:c.3735_3736delinsAGAT (MSH6) XP_011531100.1:p.Asn1246AspfsTer21
XM_011532799.1:c.3621_3622delinsAGAT (MSH6) XP_011531101.1:p.Asn1208AspfsTer21
XM_011532800.1:c.3621_3622delinsAGAT (MSH6) XP_011531102.1:p.Asn1208AspfsTer21
XM_024452819.1:c.4011_4012delinsAGAT (MSH6) XP_024308587.1:p.Asn1338AspfsTer21
XM_024452820.1:c.3828_3829delinsAGAT (MSH6) XP_024308588.1:p.Asn1277AspfsTer21
XM_024452821.1:c.3714_3715delinsAGAT (MSH6) XP_024308589.1:p.Asn1239AspfsTer21
XM_024452822.1:c.3105_3106delinsAGAT (MSH6) XP_024308590.1:p.Asn1036AspfsTer21
NM_000179.3:c.3918_3919delinsAGAT (MSH6) MANE Select NP_000170.1:p.Asn1307AspfsTer21
NM_001281492.2:c.3528_3529delinsAGAT (MSH6) NP_001268421.1:p.Asn1177AspfsTer21
NM_001281493.2:c.3012_3013delinsAGAT (MSH6) NP_001268422.1:p.Asn1005AspfsTer21
NM_001281494.2:c.3012_3013delinsAGAT (MSH6) NP_001268423.1:p.Asn1005AspfsTer21