Linked Data
ClinVar Variation Id:
455316
dbSNP Id:
rs1424851908
gnomAD v2:
2-48033796-T-TAACTA
gnomAD v4:
2-47806657-T-TAACTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806659_47806663dup , CM000664.2:g.47806659_47806663dup | GRCh38 |
| NC_000002.11:g.48033798_48033802dup , CM000664.1:g.48033798_48033802dup | GRCh37 |
| NC_000002.10:g.47887302_47887306dup | NCBI36 |
| NG_007111.1:g.28513_28517dup , LRG_219:g.28513_28517dup | |
| NG_008397.1:g.104014_104018dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3704+8_3704+12dup (MSH6) | ENSP00000406248.2:n.3704+8_3704+12dup | |
| ENST00000420813.6:c.3704+8_3704+12dup (MSH6) | ENSP00000390382.2:n.3704+8_3704+12dup | |
| ENST00000455383.6:c.3704+8_3704+12dup (MSH6) | ENSP00000397484.2:n.3704+8_3704+12dup | |
| ENST00000700004.2:c.3617+8_3617+12dup (MSH6) | ENSP00000514752.2:n.3617+8_3617+12dup | |
| ENST00000699999.1:n.4675+8_4675+12dup (MSH6) | ||
| ENST00000700000.1:c.2435+8_2435+12dup (MSH6) | ENSP00000514749.1:n.2435+8_2435+12dup | |
| ENST00000700002.1:c.4007+8_4007+12dup (MSH6) | ENSP00000514750.1:n.4007+8_4007+12dup | |
| ENST00000700003.1:c.1456+8_1456+12dup (MSH6) | ENSP00000514751.1:n.1456+8_1456+12dup | |
| ENST00000700004.1:c.2774+8_2774+12dup (MSH6) | ENSP00000514752.1:n.2774+8_2774+12dup | |
| ENST00000700005.1:n.2860_2864dup (MSH6) | ||
| ENST00000700006.1:n.5167_5171dup (MSH6) | ||
| ENST00000700007.1:n.2596+8_2596+12dup (MSH6) | ||
| ENST00000700008.1:n.2263+8_2263+12dup (MSH6) | ||
| ENST00000700009.1:n.2665+8_2665+12dup (MSH6) | ||
| ENST00000700010.1:n.1410+8_1410+12dup (MSH6) | ||
| ENST00000700011.1:n.3295+8_3295+12dup (MSH6) | ||
| ENST00000682451.1:n.4086_4090dup (FBXO11) | ||
| ENST00000684712.1:n.4348_4352dup (FBXO11) | ||
| ENST00000234420.11:c.4001+8_4001+12dup (MSH6) MANE Select | ENSP00000234420.5:n.4001+8_4001+12dup | |
| ENST00000540021.6:c.3611+8_3611+12dup (MSH6) | ENSP00000446475.1:n.3611+8_3611+12dup | |
| ENST00000652107.1:c.3704+8_3704+12dup (MSH6) | ENSP00000498629.1:n.3704+8_3704+12dup | |
| ENST00000673637.1:c.3704+8_3704+12dup (MSH6) | ENSP00000501310.1:n.3704+8_3704+12dup | |
| ENST00000234420.9:c.4001+8_4001+12dup (MSH6) | ENSP00000234420.4:n.4001+8_4001+12dup | |
| ENST00000405808.5:c.169+1533_169+1537dup (FBXO11) | ENSP00000385127.1:n.169+1533_169+1537dup | |
| ENST00000434234.5:c.*124+1332_*124+1336dup (FBXO11) | ENSP00000402692.1:n.*124+1332_*124+1336dup | |
| ENST00000445503.5:c.*3348+8_*3348+12dup (MSH6) | ENSP00000405294.1:n.*3348+8_*3348+12dup | |
| ENST00000538136.1:c.3095+8_3095+12dup (MSH6) | ENSP00000438580.1:n.3095+8_3095+12dup | |
| ENST00000540021.5:c.3611+8_3611+12dup (MSH6) | ENSP00000446475.1:n.3611+8_3611+12dup | |
| ENST00000614496.4:c.3095+8_3095+12dup (MSH6) | ENSP00000477844.1:n.3095+8_3095+12dup | |
| ENST00000622629.4:c.902+8_902+12dup (MSH6) | ENSP00000482078.1:n.902+8_902+12dup | |
| NM_000179.2:c.4001+8_4001+12dup , LRG_219t1:c.4001+8_4001+12dup (MSH6) | NP_000170.1:n.4001+8_4001+12dup | |
| NM_001281492.1:c.3611+8_3611+12dup (MSH6) | NP_001268421.1:n.3611+8_3611+12dup | |
| NM_001281493.1:c.3095+8_3095+12dup (MSH6) | NP_001268422.1:n.3095+8_3095+12dup | |
| NM_001281494.1:c.3095+8_3095+12dup (MSH6) | NP_001268423.1:n.3095+8_3095+12dup | |
| XM_005264271.1:c.3704+8_3704+12dup (MSH6) | XP_005264328.1:n.3704+8_3704+12dup | |
| XM_011532798.1:c.3818+8_3818+12dup (MSH6) | XP_011531100.1:n.3818+8_3818+12dup | |
| XM_011532799.1:c.3704+8_3704+12dup (MSH6) | XP_011531101.1:n.3704+8_3704+12dup | |
| XM_011532800.1:c.3704+8_3704+12dup (MSH6) | XP_011531102.1:n.3704+8_3704+12dup | |
| XM_024452819.1:c.4094+8_4094+12dup (MSH6) | XP_024308587.1:n.4094+8_4094+12dup | |
| XM_024452820.1:c.3911+8_3911+12dup (MSH6) | XP_024308588.1:n.3911+8_3911+12dup | |
| XM_024452821.1:c.3797+8_3797+12dup (MSH6) | XP_024308589.1:n.3797+8_3797+12dup | |
| XM_024452822.1:c.3188+8_3188+12dup (MSH6) | XP_024308590.1:n.3188+8_3188+12dup | |
| NM_000179.3:c.4001+8_4001+12dup (MSH6) MANE Select | NP_000170.1:n.4001+8_4001+12dup | |
| NM_001281492.2:c.3611+8_3611+12dup (MSH6) | NP_001268421.1:n.3611+8_3611+12dup | |
| NM_001281493.2:c.3095+8_3095+12dup (MSH6) | NP_001268422.1:n.3095+8_3095+12dup | |
| NM_001281494.2:c.3095+8_3095+12dup (MSH6) | NP_001268423.1:n.3095+8_3095+12dup |