Linked Data
ClinVar Variation Id:
36593
ClinVar RCV Id:
RCV000030271
RCV000128914
RCV000202074
RCV000524183
RCV000576542
RCV001263515
RCV003466878
RCV004541030
dbSNP Id:
rs193922343
ExAC:
2:48033392 TAAAG / T
gnomAD v2:
2-48033392-TAAAG-T
gnomAD v3:
2-47806253-TAAAG-T
gnomAD v4:
2-47806253-TAAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806256_47806259del , CM000664.2:g.47806256_47806259del | GRCh38 |
| NC_000002.11:g.48033395_48033398del , CM000664.1:g.48033395_48033398del | GRCh37 |
| NC_000002.10:g.47886899_47886902del | NCBI36 |
| NG_007111.1:g.28110_28113del , LRG_219:g.28110_28113del | |
| NG_008397.1:g.104419_104422del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3402_3405del (MSH6) | ENSP00000406248.2:p.Lys1134AsnfsTer6 | |
| ENST00000420813.6:c.3402_3405del (MSH6) | ENSP00000390382.2:p.Lys1134AsnfsTer6 | |
| ENST00000455383.6:c.3402_3405del (MSH6) | ENSP00000397484.2:p.Lys1134AsnfsTer6 | |
| ENST00000700004.2:c.3315_3318del (MSH6) | ENSP00000514752.2:p.Lys1105AsnfsTer6 | |
| ENST00000699999.1:n.4373_4376del (MSH6) | ||
| ENST00000700000.1:c.2133_2136del (MSH6) | ENSP00000514749.1:p.Lys711AsnfsTer6 | |
| ENST00000700002.1:c.3705_3708del (MSH6) | ENSP00000514750.1:p.Lys1235AsnfsTer6 | |
| ENST00000700003.1:c.1154_1157del (MSH6) | ENSP00000514751.1:n.1154_1157del | |
| ENST00000700004.1:c.2472_2475del (MSH6) | ENSP00000514752.1:p.Lys824AsnfsTer6 | |
| ENST00000700005.1:n.2550_2553del (MSH6) | ||
| ENST00000700006.1:n.4857_4860del (MSH6) | ||
| ENST00000700007.1:n.2294_2297del (MSH6) | ||
| ENST00000700008.1:n.1868_1871del (MSH6) | ||
| ENST00000700009.1:n.2363_2366del (MSH6) | ||
| ENST00000700010.1:n.1108_1111del (MSH6) | ||
| ENST00000700011.1:n.2993_2996del (MSH6) | ||
| ENST00000682451.1:n.4491_4494del (FBXO11) | ||
| ENST00000684712.1:n.4753_4756del (FBXO11) | ||
| ENST00000234420.11:c.3699_3702del (MSH6) MANE Select | ENSP00000234420.5:p.Lys1233AsnfsTer6 | |
| ENST00000540021.6:c.3309_3312del (MSH6) | ENSP00000446475.1:p.Lys1103AsnfsTer6 | |
| ENST00000652107.1:c.3402_3405del (MSH6) | ENSP00000498629.1:p.Lys1134AsnfsTer6 | |
| ENST00000673637.1:c.3402_3405del (MSH6) | ENSP00000501310.1:p.Lys1134AsnfsTer6 | |
| ENST00000234420.9:c.3699_3702del (MSH6) | ENSP00000234420.4:p.Lys1233AsnfsTer6 | |
| ENST00000405808.5:c.169+1938_169+1941del (FBXO11) | ENSP00000385127.1:n.169+1938_169+1941del | |
| ENST00000434234.5:c.*124+1737_*124+1740del (FBXO11) | ENSP00000402692.1:n.*124+1737_*124+1740del | |
| ENST00000445503.5:c.*3046_*3049del (MSH6) | ENSP00000405294.1:n.*3046_*3049del | |
| ENST00000538136.1:c.2793_2796del (MSH6) | ENSP00000438580.1:p.Lys931AsnfsTer6 | |
| ENST00000540021.5:c.3309_3312del (MSH6) | ENSP00000446475.1:p.Lys1103AsnfsTer6 | |
| ENST00000614496.4:c.2793_2796del (MSH6) | ENSP00000477844.1:p.Lys931AsnfsTer6 | |
| ENST00000622629.4:c.603_606del (MSH6) | ENSP00000482078.1:p.Lys201AsnfsTer6 | |
| NM_000179.2:c.3699_3702del , LRG_219t1:c.3699_3702del (MSH6) | NP_000170.1:p.Lys1233AsnfsTer6 | |
| NM_001281492.1:c.3309_3312del (MSH6) | NP_001268421.1:p.Lys1103AsnfsTer6 | |
| NM_001281493.1:c.2793_2796del (MSH6) | NP_001268422.1:p.Lys931AsnfsTer6 | |
| NM_001281494.1:c.2793_2796del (MSH6) | NP_001268423.1:p.Lys931AsnfsTer6 | |
| XM_005264271.1:c.3402_3405del (MSH6) | XP_005264328.1:p.Lys1134AsnfsTer6 | |
| XM_011532798.1:c.3516_3519del (MSH6) | XP_011531100.1:p.Lys1172AsnfsTer6 | |
| XM_011532799.1:c.3402_3405del (MSH6) | XP_011531101.1:p.Lys1134AsnfsTer6 | |
| XM_011532800.1:c.3402_3405del (MSH6) | XP_011531102.1:p.Lys1134AsnfsTer6 | |
| XM_024452819.1:c.3699_3702del (MSH6) | XP_024308587.1:p.Lys1233AsnfsTer6 | |
| XM_024452820.1:c.3516_3519del (MSH6) | XP_024308588.1:p.Lys1172AsnfsTer6 | |
| XM_024452821.1:c.3402_3405del (MSH6) | XP_024308589.1:p.Lys1134AsnfsTer6 | |
| XM_024452822.1:c.2793_2796del (MSH6) | XP_024308590.1:p.Lys931AsnfsTer6 | |
| NM_000179.3:c.3699_3702del (MSH6) MANE Select | NP_000170.1:p.Lys1233AsnfsTer6 | |
| NM_001281492.2:c.3309_3312del (MSH6) | NP_001268421.1:p.Lys1103AsnfsTer6 | |
| NM_001281493.2:c.2793_2796del (MSH6) | NP_001268422.1:p.Lys931AsnfsTer6 | |
| NM_001281494.2:c.2793_2796del (MSH6) | NP_001268423.1:p.Lys931AsnfsTer6 |