ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806257_47806259dup , CM000664.2:g.47806257_47806259dup | GRCh38 |
| NC_000002.11:g.48033396_48033398dup , CM000664.1:g.48033396_48033398dup | GRCh37 |
| NC_000002.10:g.47886900_47886902dup | NCBI36 |
| NG_007111.1:g.28111_28113dup , LRG_219:g.28111_28113dup | |
| NG_008397.1:g.104419_104421dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3403_3405dup (MSH6) | ENSP00000406248.2:p.Glu1135_Leu1136insGlu | |
| ENST00000420813.6:c.3403_3405dup (MSH6) | ENSP00000390382.2:p.Glu1135_Leu1136insGlu | |
| ENST00000455383.6:c.3403_3405dup (MSH6) | ENSP00000397484.2:p.Glu1135_Leu1136insGlu | |
| ENST00000700004.2:c.3316_3318dup (MSH6) | ENSP00000514752.2:p.Glu1106_Leu1107insGlu | |
| ENST00000699999.1:n.4374_4376dup (MSH6) | ||
| ENST00000700000.1:c.2134_2136dup (MSH6) | ENSP00000514749.1:p.Glu712_Leu713insGlu | |
| ENST00000700002.1:c.3706_3708dup (MSH6) | ENSP00000514750.1:p.Glu1236_Leu1237insGlu | |
| ENST00000700003.1:c.1155_1157dup (MSH6) | ENSP00000514751.1:n.1155_1157dup | |
| ENST00000700004.1:c.2473_2475dup (MSH6) | ENSP00000514752.1:p.Glu825_Leu826insGlu | |
| ENST00000700005.1:n.2551_2553dup (MSH6) | ||
| ENST00000700006.1:n.4858_4860dup (MSH6) | ||
| ENST00000700007.1:n.2295_2297dup (MSH6) | ||
| ENST00000700008.1:n.1869_1871dup (MSH6) | ||
| ENST00000700009.1:n.2364_2366dup (MSH6) | ||
| ENST00000700010.1:n.1109_1111dup (MSH6) | ||
| ENST00000700011.1:n.2994_2996dup (MSH6) | ||
| ENST00000682451.1:n.4491_4493dup (FBXO11) | ||
| ENST00000684712.1:n.4753_4755dup (FBXO11) | ||
| ENST00000234420.11:c.3700_3702dup (MSH6) MANE Select | ENSP00000234420.5:p.Glu1234_Leu1235insGlu | |
| ENST00000540021.6:c.3310_3312dup (MSH6) | ENSP00000446475.1:p.Glu1104_Leu1105insGlu | |
| ENST00000652107.1:c.3403_3405dup (MSH6) | ENSP00000498629.1:p.Glu1135_Leu1136insGlu | |
| ENST00000673637.1:c.3403_3405dup (MSH6) | ENSP00000501310.1:p.Glu1135_Leu1136insGlu | |
| ENST00000234420.9:c.3700_3702dup (MSH6) | ENSP00000234420.4:p.Glu1234_Leu1235insGlu | |
| ENST00000405808.5:c.169+1938_169+1940dup (FBXO11) | ENSP00000385127.1:n.169+1938_169+1940dup | |
| ENST00000434234.5:c.*124+1737_*124+1739dup (FBXO11) | ENSP00000402692.1:n.*124+1737_*124+1739dup | |
| ENST00000445503.5:c.*3047_*3049dup (MSH6) | ENSP00000405294.1:n.*3047_*3049dup | |
| ENST00000538136.1:c.2794_2796dup (MSH6) | ENSP00000438580.1:p.Glu932_Leu933insGlu | |
| ENST00000540021.5:c.3310_3312dup (MSH6) | ENSP00000446475.1:p.Glu1104_Leu1105insGlu | |
| ENST00000614496.4:c.2794_2796dup (MSH6) | ENSP00000477844.1:p.Glu932_Leu933insGlu | |
| ENST00000622629.4:c.604_606dup (MSH6) | ENSP00000482078.1:p.Glu202_Leu203insGlu | |
| NM_000179.2:c.3700_3702dup , LRG_219t1:c.3700_3702dup (MSH6) | NP_000170.1:p.Glu1234_Leu1235insGlu | |
| NM_001281492.1:c.3310_3312dup (MSH6) | NP_001268421.1:p.Glu1104_Leu1105insGlu | |
| NM_001281493.1:c.2794_2796dup (MSH6) | NP_001268422.1:p.Glu932_Leu933insGlu | |
| NM_001281494.1:c.2794_2796dup (MSH6) | NP_001268423.1:p.Glu932_Leu933insGlu | |
| XM_005264271.1:c.3403_3405dup (MSH6) | XP_005264328.1:p.Glu1135_Leu1136insGlu | |
| XM_011532798.1:c.3517_3519dup (MSH6) | XP_011531100.1:p.Glu1173_Leu1174insGlu | |
| XM_011532799.1:c.3403_3405dup (MSH6) | XP_011531101.1:p.Glu1135_Leu1136insGlu | |
| XM_011532800.1:c.3403_3405dup (MSH6) | XP_011531102.1:p.Glu1135_Leu1136insGlu | |
| XM_024452819.1:c.3700_3702dup (MSH6) | XP_024308587.1:p.Glu1234_Leu1235insGlu | |
| XM_024452820.1:c.3517_3519dup (MSH6) | XP_024308588.1:p.Glu1173_Leu1174insGlu | |
| XM_024452821.1:c.3403_3405dup (MSH6) | XP_024308589.1:p.Glu1135_Leu1136insGlu | |
| XM_024452822.1:c.2794_2796dup (MSH6) | XP_024308590.1:p.Glu932_Leu933insGlu | |
| NM_000179.3:c.3700_3702dup (MSH6) MANE Select | NP_000170.1:p.Glu1234_Leu1235insGlu | |
| NM_001281492.2:c.3310_3312dup (MSH6) | NP_001268421.1:p.Glu1104_Leu1105insGlu | |
| NM_001281493.2:c.2794_2796dup (MSH6) | NP_001268422.1:p.Glu932_Leu933insGlu | |
| NM_001281494.2:c.2794_2796dup (MSH6) | NP_001268423.1:p.Glu932_Leu933insGlu |