Linked Data
ClinVar Variation Id:
1441187
ClinVar RCV Id:
RCV001979052
dbSNP Id:
rs1328755147
gnomAD v2:
2-48033630-G-GAGACTATTACGTTCCTCTATAAATTCATTA
gnomAD v3:
2-47806491-G-GAGACTATTACGTTCCTCTATAAATTCATTA
gnomAD v4:
2-47806491-G-GAGACTATTACGTTCCTCTATAAATTCATTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806494_47806523dup , CM000664.2:g.47806494_47806523dup | GRCh38 |
| NC_000002.11:g.48033633_48033662dup , CM000664.1:g.48033633_48033662dup | GRCh37 |
| NC_000002.10:g.47887137_47887166dup | NCBI36 |
| NG_007111.1:g.28348_28377dup , LRG_219:g.28348_28377dup | |
| NG_008397.1:g.104155_104184dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3547_3576dup (MSH6) | ENSP00000406248.2:p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPh... | |
| ENST00000420813.6:c.3547_3576dup (MSH6) | ENSP00000390382.2:p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPh... | |
| ENST00000455383.6:c.3547_3576dup (MSH6) | ENSP00000397484.2:p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPh... | |
| ENST00000700004.2:c.3460_3489dup (MSH6) | ENSP00000514752.2:p.Lys1163_Gly1164insThrIleThrPheLeuTyrLysPh... | |
| ENST00000699999.1:n.4518_4547dup (MSH6) | ||
| ENST00000700000.1:c.2278_2307dup (MSH6) | ENSP00000514749.1:p.Lys769_Gly770insThrIleThrPheLeuTyrLysPheI... | |
| ENST00000700002.1:c.3850_3879dup (MSH6) | ENSP00000514750.1:p.Lys1293_Gly1294insThrIleThrPheLeuTyrLysPh... | |
| ENST00000700003.1:c.1299_1328dup (MSH6) | ENSP00000514751.1:n.1299_1328dup | |
| ENST00000700004.1:c.2617_2646dup (MSH6) | ENSP00000514752.1:p.Lys882_Gly883insThrIleThrPheLeuTyrLysPheI... | |
| ENST00000700005.1:n.2695_2724dup (MSH6) | ||
| ENST00000700006.1:n.5002_5031dup (MSH6) | ||
| ENST00000700007.1:n.2439_2468dup (MSH6) | ||
| ENST00000700008.1:n.2106_2135dup (MSH6) | ||
| ENST00000700009.1:n.2508_2537dup (MSH6) | ||
| ENST00000700010.1:n.1253_1282dup (MSH6) | ||
| ENST00000700011.1:n.3138_3167dup (MSH6) | ||
| ENST00000682451.1:n.4227_4256dup (FBXO11) | ||
| ENST00000684712.1:n.4489_4518dup (FBXO11) | ||
| ENST00000234420.11:c.3844_3873dup (MSH6) MANE Select | ENSP00000234420.5:p.Lys1291_Gly1292insThrIleThrPheLeuTyrLysPh... | |
| ENST00000540021.6:c.3454_3483dup (MSH6) | ENSP00000446475.1:p.Lys1161_Gly1162insThrIleThrPheLeuTyrLysPh... | |
| ENST00000652107.1:c.3547_3576dup (MSH6) | ENSP00000498629.1:p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPh... | |
| ENST00000673637.1:c.3547_3576dup (MSH6) | ENSP00000501310.1:p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPh... | |
| ENST00000234420.9:c.3844_3873dup (MSH6) | ENSP00000234420.4:p.Lys1291_Gly1292insThrIleThrPheLeuTyrLysPh... | |
| ENST00000405808.5:c.169+1674_169+1703dup (FBXO11) | ENSP00000385127.1:n.169+1674_169+1703dup | |
| ENST00000434234.5:c.*124+1473_*124+1502dup (FBXO11) | ENSP00000402692.1:n.*124+1473_*124+1502dup | |
| ENST00000445503.5:c.*3191_*3220dup (MSH6) | ENSP00000405294.1:n.*3191_*3220dup | |
| ENST00000538136.1:c.2938_2967dup (MSH6) | ENSP00000438580.1:p.Lys989_Gly990insThrIleThrPheLeuTyrLysPheI... | |
| ENST00000540021.5:c.3454_3483dup (MSH6) | ENSP00000446475.1:p.Lys1161_Gly1162insThrIleThrPheLeuTyrLysPh... | |
| ENST00000614496.4:c.2938_2967dup (MSH6) | ENSP00000477844.1:p.Lys989_Gly990insThrIleThrPheLeuTyrLysPheI... | |
| ENST00000622629.4:c.745_774dup (MSH6) | ENSP00000482078.1:p.Lys258_Gly259insThrIleThrPheLeuTyrLysPheI... | |
| NM_000179.2:c.3844_3873dup , LRG_219t1:c.3844_3873dup (MSH6) | NP_000170.1:p.Lys1291_Gly1292insThrIleThrPheLeuTyrLysPheIleLy... | |
| NM_001281492.1:c.3454_3483dup (MSH6) | NP_001268421.1:p.Lys1161_Gly1162insThrIleThrPheLeuTyrLysPheIl... | |
| NM_001281493.1:c.2938_2967dup (MSH6) | NP_001268422.1:p.Lys989_Gly990insThrIleThrPheLeuTyrLysPheIleL... | |
| NM_001281494.1:c.2938_2967dup (MSH6) | NP_001268423.1:p.Lys989_Gly990insThrIleThrPheLeuTyrLysPheIleL... | |
| XM_005264271.1:c.3547_3576dup (MSH6) | XP_005264328.1:p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPheIl... | |
| XM_011532798.1:c.3661_3690dup (MSH6) | XP_011531100.1:p.Lys1230_Gly1231insThrIleThrPheLeuTyrLysPheIl... | |
| XM_011532799.1:c.3547_3576dup (MSH6) | XP_011531101.1:p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPheIl... | |
| XM_011532800.1:c.3547_3576dup (MSH6) | XP_011531102.1:p.Lys1192_Gly1193insThrIleThrPheLeuTyrLysPheIl... | |
| XM_024452819.1:c.3937_3966dup (MSH6) | XP_024308587.1:p.Lys1322_Gly1323insThrIleThrPheLeuTyrLysPheIl... | |
| XM_024452820.1:c.3754_3783dup (MSH6) | XP_024308588.1:p.Lys1261_Gly1262insThrIleThrPheLeuTyrLysPheIl... | |
| XM_024452821.1:c.3640_3669dup (MSH6) | XP_024308589.1:p.Lys1223_Gly1224insThrIleThrPheLeuTyrLysPheIl... | |
| XM_024452822.1:c.3031_3060dup (MSH6) | XP_024308590.1:p.Lys1020_Gly1021insThrIleThrPheLeuTyrLysPheIl... | |
| NM_000179.3:c.3844_3873dup (MSH6) MANE Select | NP_000170.1:p.Lys1291_Gly1292insThrIleThrPheLeuTyrLysPheIleLy... | |
| NM_001281492.2:c.3454_3483dup (MSH6) | NP_001268421.1:p.Lys1161_Gly1162insThrIleThrPheLeuTyrLysPheIl... | |
| NM_001281493.2:c.2938_2967dup (MSH6) | NP_001268422.1:p.Lys989_Gly990insThrIleThrPheLeuTyrLysPheIleL... | |
| NM_001281494.2:c.2938_2967dup (MSH6) | NP_001268423.1:p.Lys989_Gly990insThrIleThrPheLeuTyrLysPheIleL... |