Linked Data
ClinVar Variation Id:
89475
ClinVar RCV Id:
RCV000074943
RCV000214756
RCV000484754
RCV000524190
RCV000576567
RCV001355170
RCV001420852
dbSNP Id:
rs267608128
gnomAD v4:
2-47806496-T-TATTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806497_47806500dup , CM000664.2:g.47806497_47806500dup | GRCh38 |
| NC_000002.11:g.48033636_48033639dup , CM000664.1:g.48033636_48033639dup | GRCh37 |
| NC_000002.10:g.47887140_47887143dup | NCBI36 |
| NG_007111.1:g.28351_28354dup , LRG_219:g.28351_28354dup | |
| NG_008397.1:g.104176_104179dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3550_3553dup (MSH6) | ENSP00000406248.2:p.Thr1185AsnfsTer6 | |
| ENST00000420813.6:c.3550_3553dup (MSH6) | ENSP00000390382.2:p.Thr1185AsnfsTer6 | |
| ENST00000455383.6:c.3550_3553dup (MSH6) | ENSP00000397484.2:p.Thr1185AsnfsTer6 | |
| ENST00000700004.2:c.3463_3466dup (MSH6) | ENSP00000514752.2:p.Thr1156AsnfsTer6 | |
| ENST00000699999.1:n.4521_4524dup (MSH6) | ||
| ENST00000700000.1:c.2281_2284dup (MSH6) | ENSP00000514749.1:p.Thr762AsnfsTer6 | |
| ENST00000700002.1:c.3853_3856dup (MSH6) | ENSP00000514750.1:p.Thr1286AsnfsTer6 | |
| ENST00000700003.1:c.1302_1305dup (MSH6) | ENSP00000514751.1:n.1302_1305dup | |
| ENST00000700004.1:c.2620_2623dup (MSH6) | ENSP00000514752.1:p.Thr875AsnfsTer6 | |
| ENST00000700005.1:n.2698_2701dup (MSH6) | ||
| ENST00000700006.1:n.5005_5008dup (MSH6) | ||
| ENST00000700007.1:n.2442_2445dup (MSH6) | ||
| ENST00000700008.1:n.2109_2112dup (MSH6) | ||
| ENST00000700009.1:n.2511_2514dup (MSH6) | ||
| ENST00000700010.1:n.1256_1259dup (MSH6) | ||
| ENST00000700011.1:n.3141_3144dup (MSH6) | ||
| ENST00000682451.1:n.4248_4251dup (FBXO11) | ||
| ENST00000684712.1:n.4510_4513dup (FBXO11) | ||
| ENST00000234420.11:c.3847_3850dup (MSH6) MANE Select | ENSP00000234420.5:p.Thr1284AsnfsTer6 | |
| ENST00000540021.6:c.3457_3460dup (MSH6) | ENSP00000446475.1:p.Thr1154AsnfsTer6 | |
| ENST00000652107.1:c.3550_3553dup (MSH6) | ENSP00000498629.1:p.Thr1185AsnfsTer6 | |
| ENST00000673637.1:c.3550_3553dup (MSH6) | ENSP00000501310.1:p.Thr1185AsnfsTer6 | |
| ENST00000234420.9:c.3847_3850dup (MSH6) | ENSP00000234420.4:p.Thr1284AsnfsTer6 | |
| ENST00000405808.5:c.169+1695_169+1698dup (FBXO11) | ENSP00000385127.1:n.169+1695_169+1698dup | |
| ENST00000434234.5:c.*124+1494_*124+1497dup (FBXO11) | ENSP00000402692.1:n.*124+1494_*124+1497du... | |
| ENST00000445503.5:c.*3194_*3197dup (MSH6) | ENSP00000405294.1:n.*3194_*3197dup | |
| ENST00000538136.1:c.2941_2944dup (MSH6) | ENSP00000438580.1:p.Thr982AsnfsTer6 | |
| ENST00000540021.5:c.3457_3460dup (MSH6) | ENSP00000446475.1:p.Thr1154AsnfsTer6 | |
| ENST00000614496.4:c.2941_2944dup (MSH6) | ENSP00000477844.1:p.Thr982AsnfsTer6 | |
| ENST00000622629.4:c.748_751dup (MSH6) | ENSP00000482078.1:p.Thr251AsnfsTer6 | |
| NM_000179.2:c.3847_3850dup , LRG_219t1:c.3847_3850dup (MSH6) | NP_000170.1:p.Thr1284AsnfsTer6 | |
| NM_001281492.1:c.3457_3460dup (MSH6) | NP_001268421.1:p.Thr1154AsnfsTer6 | |
| NM_001281493.1:c.2941_2944dup (MSH6) | NP_001268422.1:p.Thr982AsnfsTer6 | |
| NM_001281494.1:c.2941_2944dup (MSH6) | NP_001268423.1:p.Thr982AsnfsTer6 | |
| XM_005264271.1:c.3550_3553dup (MSH6) | XP_005264328.1:p.Thr1185AsnfsTer6 | |
| XM_011532798.1:c.3664_3667dup (MSH6) | XP_011531100.1:p.Thr1223AsnfsTer6 | |
| XM_011532799.1:c.3550_3553dup (MSH6) | XP_011531101.1:p.Thr1185AsnfsTer6 | |
| XM_011532800.1:c.3550_3553dup (MSH6) | XP_011531102.1:p.Thr1185AsnfsTer6 | |
| XM_024452819.1:c.3940_3943dup (MSH6) | XP_024308587.1:p.Thr1315AsnfsTer6 | |
| XM_024452820.1:c.3757_3760dup (MSH6) | XP_024308588.1:p.Thr1254AsnfsTer6 | |
| XM_024452821.1:c.3643_3646dup (MSH6) | XP_024308589.1:p.Thr1216AsnfsTer6 | |
| XM_024452822.1:c.3034_3037dup (MSH6) | XP_024308590.1:p.Thr1013AsnfsTer6 | |
| NM_000179.3:c.3847_3850dup (MSH6) MANE Select | NP_000170.1:p.Thr1284AsnfsTer6 | |
| NM_001281492.2:c.3457_3460dup (MSH6) | NP_001268421.1:p.Thr1154AsnfsTer6 | |
| NM_001281493.2:c.2941_2944dup (MSH6) | NP_001268422.1:p.Thr982AsnfsTer6 | |
| NM_001281494.2:c.2941_2944dup (MSH6) | NP_001268423.1:p.Thr982AsnfsTer6 |