Linked Data
ClinVar Variation Id:
416184
dbSNP Id:
rs745801834
ExAC:
2:48033581 C / CTTTCT
gnomAD v2:
2-48033581-C-CTTTCT
gnomAD v3:
2-47806442-C-CTTTCT
gnomAD v4:
2-47806442-C-CTTTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806444_47806448dup , CM000664.2:g.47806444_47806448dup | GRCh38 |
| NC_000002.11:g.48033583_48033587dup , CM000664.1:g.48033583_48033587dup | GRCh37 |
| NC_000002.10:g.47887087_47887091dup | NCBI36 |
| NG_007111.1:g.28298_28302dup , LRG_219:g.28298_28302dup | |
| NG_008397.1:g.104229_104233dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3505-8_3505-4dup (MSH6) | ENSP00000406248.2:n.3505-8_3505-4dup | |
| ENST00000420813.6:c.3505-8_3505-4dup (MSH6) | ENSP00000390382.2:n.3505-8_3505-4dup | |
| ENST00000455383.6:c.3505-8_3505-4dup (MSH6) | ENSP00000397484.2:n.3505-8_3505-4dup | |
| ENST00000700004.2:c.3418-8_3418-4dup (MSH6) | ENSP00000514752.2:n.3418-8_3418-4dup | |
| ENST00000699999.1:n.4476-8_4476-4dup (MSH6) | ||
| ENST00000700000.1:c.2236-8_2236-4dup (MSH6) | ENSP00000514749.1:n.2236-8_2236-4dup | |
| ENST00000700002.1:c.3808-8_3808-4dup (MSH6) | ENSP00000514750.1:n.3808-8_3808-4dup | |
| ENST00000700003.1:c.1257-8_1257-4dup (MSH6) | ENSP00000514751.1:n.1257-8_1257-4dup | |
| ENST00000700004.1:c.2575-8_2575-4dup (MSH6) | ENSP00000514752.1:n.2575-8_2575-4dup | |
| ENST00000700005.1:n.2653-8_2653-4dup (MSH6) | ||
| ENST00000700006.1:n.4960-8_4960-4dup (MSH6) | ||
| ENST00000700007.1:n.2397-8_2397-4dup (MSH6) | ||
| ENST00000700008.1:n.2056_2060dup (MSH6) | ||
| ENST00000700009.1:n.2466-8_2466-4dup (MSH6) | ||
| ENST00000700010.1:n.1211-8_1211-4dup (MSH6) | ||
| ENST00000700011.1:n.3096-8_3096-4dup (MSH6) | ||
| ENST00000682451.1:n.4301_4305dup (FBXO11) | ||
| ENST00000684712.1:n.4563_4567dup (FBXO11) | ||
| ENST00000234420.11:c.3802-8_3802-4dup (MSH6) MANE Select | ENSP00000234420.5:n.3802-8_3802-4dup | |
| ENST00000540021.6:c.3412-8_3412-4dup (MSH6) | ENSP00000446475.1:n.3412-8_3412-4dup | |
| ENST00000652107.1:c.3505-8_3505-4dup (MSH6) | ENSP00000498629.1:n.3505-8_3505-4dup | |
| ENST00000673637.1:c.3505-8_3505-4dup (MSH6) | ENSP00000501310.1:n.3505-8_3505-4dup | |
| ENST00000234420.9:c.3802-8_3802-4dup (MSH6) | ENSP00000234420.4:n.3802-8_3802-4dup | |
| ENST00000405808.5:c.169+1748_169+1752dup (FBXO11) | ENSP00000385127.1:n.169+1748_169+1752dup | |
| ENST00000434234.5:c.*124+1547_*124+1551dup (FBXO11) | ENSP00000402692.1:n.*124+1547_*124+1551dup | |
| ENST00000445503.5:c.*3149-8_*3149-4dup (MSH6) | ENSP00000405294.1:n.*3149-8_*3149-4dup | |
| ENST00000538136.1:c.2896-8_2896-4dup (MSH6) | ENSP00000438580.1:n.2896-8_2896-4dup | |
| ENST00000540021.5:c.3412-8_3412-4dup (MSH6) | ENSP00000446475.1:n.3412-8_3412-4dup | |
| ENST00000614496.4:c.2896-8_2896-4dup (MSH6) | ENSP00000477844.1:n.2896-8_2896-4dup | |
| ENST00000622629.4:c.703-8_703-4dup (MSH6) | ENSP00000482078.1:n.703-8_703-4dup | |
| NM_000179.2:c.3802-8_3802-4dup , LRG_219t1:c.3802-8_3802-4dup (MSH6) | NP_000170.1:n.3802-8_3802-4dup | |
| NM_001281492.1:c.3412-8_3412-4dup (MSH6) | NP_001268421.1:n.3412-8_3412-4dup | |
| NM_001281493.1:c.2896-8_2896-4dup (MSH6) | NP_001268422.1:n.2896-8_2896-4dup | |
| NM_001281494.1:c.2896-8_2896-4dup (MSH6) | NP_001268423.1:n.2896-8_2896-4dup | |
| XM_005264271.1:c.3505-8_3505-4dup (MSH6) | XP_005264328.1:n.3505-8_3505-4dup | |
| XM_011532798.1:c.3619-8_3619-4dup (MSH6) | XP_011531100.1:n.3619-8_3619-4dup | |
| XM_011532799.1:c.3505-8_3505-4dup (MSH6) | XP_011531101.1:n.3505-8_3505-4dup | |
| XM_011532800.1:c.3505-8_3505-4dup (MSH6) | XP_011531102.1:n.3505-8_3505-4dup | |
| XM_024452819.1:c.3887_3891dup (MSH6) | XP_024308587.1:p.Lys1298PhefsTer7 | |
| XM_024452820.1:c.3704_3708dup (MSH6) | XP_024308588.1:p.Lys1237PhefsTer7 | |
| XM_024452821.1:c.3590_3594dup (MSH6) | XP_024308589.1:p.Lys1199PhefsTer7 | |
| XM_024452822.1:c.2981_2985dup (MSH6) | XP_024308590.1:p.Lys996PhefsTer7 | |
| NM_000179.3:c.3802-8_3802-4dup (MSH6) MANE Select | NP_000170.1:n.3802-8_3802-4dup | |
| NM_001281492.2:c.3412-8_3412-4dup (MSH6) | NP_001268421.1:n.3412-8_3412-4dup | |
| NM_001281493.2:c.2896-8_2896-4dup (MSH6) | NP_001268422.1:n.2896-8_2896-4dup | |
| NM_001281494.2:c.2896-8_2896-4dup (MSH6) | NP_001268423.1:n.2896-8_2896-4dup |