Linked Data
ClinVar Variation Id:
428289
dbSNP Id:
rs2104583584
gnomAD v3:
2-47806829-A-ATAAATTGCTGACTTTGATTAAGGAATTAT
gnomAD v4:
2-47806829-A-ATAAATTGCTGACTTTGATTAAGGAATTAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806830_47806858dup , CM000664.2:g.47806830_47806858dup | GRCh38 |
| NC_000002.11:g.48033969_48033997dup , CM000664.1:g.48033969_48033997dup | GRCh37 |
| NC_000002.10:g.47887473_47887501dup | NCBI36 |
| NG_007111.1:g.28684_28712dup , LRG_219:g.28684_28712dup | |
| NG_008397.1:g.103818_103846dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3756_3784dup (MSH6) | ENSP00000406248.2:p.Ter1262LeuextTer4 | |
| ENST00000420813.6:c.3756_3784dup (MSH6) | ENSP00000390382.2:p.Ter1262LeuextTer4 | |
| ENST00000455383.6:c.3756_3784dup (MSH6) | ENSP00000397484.2:p.Ter1262LeuextTer4 | |
| ENST00000700004.2:c.3669_3697dup (MSH6) | ENSP00000514752.2:p.Ter1233LeuextTer4 | |
| ENST00000699999.1:n.4727_4755dup (MSH6) | ||
| ENST00000700000.1:c.2487_2515dup (MSH6) | ENSP00000514749.1:p.Ter839LeuextTer4 | |
| ENST00000700002.1:c.4059_4087dup (MSH6) | ENSP00000514750.1:p.Ter1363LeuextTer4 | |
| ENST00000700003.1:c.1508_1536dup (MSH6) | ENSP00000514751.1:n.1508_1536dup | |
| ENST00000700004.1:c.2826_2854dup (MSH6) | ENSP00000514752.1:p.Ter952LeuextTer4 | |
| ENST00000700005.1:n.3031_3059dup (MSH6) | ||
| ENST00000700007.1:n.2648_2676dup (MSH6) | ||
| ENST00000700008.1:n.2315_2343dup (MSH6) | ||
| ENST00000700009.1:n.2717_2745dup (MSH6) | ||
| ENST00000700010.1:n.1462_1490dup (MSH6) | ||
| ENST00000700011.1:n.3347_3375dup (MSH6) | ||
| ENST00000682451.1:n.3890_3918dup (FBXO11) | ||
| ENST00000684712.1:n.4152_4180dup (FBXO11) | ||
| ENST00000234420.11:c.4053_4081dup (MSH6) MANE Select | ENSP00000234420.5:p.Ter1361LeuextTer4 | |
| ENST00000540021.6:c.3663_3691dup (MSH6) | ENSP00000446475.1:p.Ter1231LeuextTer4 | |
| ENST00000652107.1:c.3756_3784dup (MSH6) | ENSP00000498629.1:p.Ter1262LeuextTer4 | |
| ENST00000673637.1:c.3756_3784dup (MSH6) | ENSP00000501310.1:p.Ter1262LeuextTer4 | |
| ENST00000234420.9:c.4053_4081dup (MSH6) | ENSP00000234420.4:p.Ter1361LeuextTer4 | |
| ENST00000405808.5:c.169+1337_169+1365dup (FBXO11) | ENSP00000385127.1:n.169+1337_169+1365dup | |
| ENST00000434234.5:c.*124+1136_*124+1164dup (FBXO11) | ENSP00000402692.1:n.*124+1136_*124+1164du... | |
| ENST00000445503.5:c.*3400_*3428dup (MSH6) | ENSP00000405294.1:n.*3400_*3428dup | |
| ENST00000465204.5:n.3052_3080dup (FBXO11) | ||
| ENST00000538136.1:c.3147_3175dup (MSH6) | ENSP00000438580.1:p.Ter1059LeuextTer4 | |
| ENST00000540021.5:c.3663_3691dup (MSH6) | ENSP00000446475.1:p.Ter1231LeuextTer4 | |
| ENST00000614496.4:c.3147_3175dup (MSH6) | ENSP00000477844.1:p.Ter1059LeuextTer4 | |
| ENST00000622629.4:c.954_982dup (MSH6) | ENSP00000482078.1:p.Ter328LeuextTer4 | |
| NM_000179.2:c.4053_4081dup , LRG_219t1:c.4053_4081dup (MSH6) | NP_000170.1:p.Ter1361LeuextTer4 | |
| NM_001281492.1:c.3663_3691dup (MSH6) | NP_001268421.1:p.Ter1231LeuextTer4 | |
| NM_001281493.1:c.3147_3175dup (MSH6) | NP_001268422.1:p.Ter1059LeuextTer4 | |
| NM_001281494.1:c.3147_3175dup (MSH6) | NP_001268423.1:p.Ter1059LeuextTer4 | |
| XM_005264271.1:c.3756_3784dup (MSH6) | XP_005264328.1:p.Ter1262LeuextTer4 | |
| XM_011532798.1:c.3870_3898dup (MSH6) | XP_011531100.1:p.Ter1300LeuextTer4 | |
| XM_011532799.1:c.3756_3784dup (MSH6) | XP_011531101.1:p.Ter1262LeuextTer4 | |
| XM_011532800.1:c.3756_3784dup (MSH6) | XP_011531102.1:p.Ter1262LeuextTer4 | |
| XM_024452819.1:c.4146_4174dup (MSH6) | XP_024308587.1:p.Ter1392LeuextTer4 | |
| XM_024452820.1:c.3963_3991dup (MSH6) | XP_024308588.1:p.Ter1331LeuextTer4 | |
| XM_024452821.1:c.3849_3877dup (MSH6) | XP_024308589.1:p.Ter1293LeuextTer4 | |
| XM_024452822.1:c.3240_3268dup (MSH6) | XP_024308590.1:p.Ter1090LeuextTer4 | |
| NM_000179.3:c.4053_4081dup (MSH6) MANE Select | NP_000170.1:p.Ter1361LeuextTer4 | |
| NM_001281492.2:c.3663_3691dup (MSH6) | NP_001268421.1:p.Ter1231LeuextTer4 | |
| NM_001281493.2:c.3147_3175dup (MSH6) | NP_001268422.1:p.Ter1059LeuextTer4 | |
| NM_001281494.2:c.3147_3175dup (MSH6) | NP_001268423.1:p.Ter1059LeuextTer4 |