Linked Data
ClinVar Variation Id:
187691
dbSNP Id:
rs786203924
gnomAD v4:
2-47800887-CTA-C
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47800889_47800890del , CM000664.2:g.47800889_47800890del | GRCh38 |
| NC_000002.11:g.48028028_48028029del , CM000664.1:g.48028028_48028029del | GRCh37 |
| NC_000002.10:g.47881532_47881533del | NCBI36 |
| NG_007111.1:g.22743_22744del , LRG_219:g.22743_22744del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.2609_2610del (MSH6) | ENSP00000406248.2:p.Tyr870LeufsTer5 | |
| ENST00000420813.6:c.2609_2610del (MSH6) | ENSP00000390382.2:p.Tyr870LeufsTer5 | |
| ENST00000455383.6:c.2609_2610del (MSH6) | ENSP00000397484.2:p.Tyr870LeufsTer5 | |
| ENST00000700004.2:c.2906_2907del (MSH6) | ENSP00000514752.2:p.Tyr969LeufsTer5 | |
| ENST00000699999.1:n.2990_2991del (MSH6) | ||
| ENST00000700000.1:c.1606+1300_1606+1301del (MSH6) | ENSP00000514749.1:n.1606+1300_1606+1301de... | |
| ENST00000700002.1:c.2912_2913del (MSH6) | ENSP00000514750.1:p.Tyr971LeufsTer5 | |
| ENST00000700003.1:c.628-2531_628-2530del (MSH6) | ENSP00000514751.1:n.628-2531_628-2530del | |
| ENST00000700004.1:c.2063_2064del (MSH6) | ENSP00000514752.1:p.Tyr688LeufsTer5 | |
| ENST00000234420.11:c.2906_2907del (MSH6) MANE Select | ENSP00000234420.5:p.Tyr969LeufsTer5 | |
| ENST00000540021.6:c.2516_2517del (MSH6) | ENSP00000446475.1:p.Tyr839LeufsTer5 | |
| ENST00000652107.1:c.2609_2610del (MSH6) | ENSP00000498629.1:p.Tyr870LeufsTer5 | |
| ENST00000673637.1:c.2609_2610del (MSH6) | ENSP00000501310.1:p.Tyr870LeufsTer5 | |
| ENST00000234420.9:c.2906_2907del (MSH6) | ENSP00000234420.4:p.Tyr969LeufsTer5 | |
| ENST00000405808.5:c.169+7306_169+7307del (FBXO11) | ENSP00000385127.1:n.169+7306_169+7307del | |
| ENST00000434234.5:c.*124+7105_*124+7106del (FBXO11) | ENSP00000402692.1:n.*124+7105_*124+7106de... | |
| ENST00000445503.5:c.*2253_*2254del (MSH6) | ENSP00000405294.1:n.*2253_*2254del | |
| ENST00000538136.1:c.2000_2001del (MSH6) | ENSP00000438580.1:p.Tyr667LeufsTer5 | |
| ENST00000540021.5:c.2516_2517del (MSH6) | ENSP00000446475.1:p.Tyr839LeufsTer5 | |
| ENST00000614496.4:c.2000_2001del (MSH6) | ENSP00000477844.1:p.Tyr667LeufsTer5 | |
| ENST00000616033.4:c.2903_2904del (MSH6) | ENSP00000480261.1:p.Tyr968LeufsTer5 | |
| ENST00000622629.4:c.-191_-190del (MSH6) | ENSP00000482078.1:n.-191_-190del | |
| NM_000179.2:c.2906_2907del , LRG_219t1:c.2906_2907del (MSH6) | NP_000170.1:p.Tyr969LeufsTer5 | |
| NM_001281492.1:c.2516_2517del (MSH6) | NP_001268421.1:p.Tyr839LeufsTer5 | |
| NM_001281493.1:c.2000_2001del (MSH6) | NP_001268422.1:p.Tyr667LeufsTer5 | |
| NM_001281494.1:c.2000_2001del (MSH6) | NP_001268423.1:p.Tyr667LeufsTer5 | |
| XM_005264271.1:c.2609_2610del (MSH6) | XP_005264328.1:p.Tyr870LeufsTer5 | |
| XM_011532798.1:c.2723_2724del (MSH6) | XP_011531100.1:p.Tyr908LeufsTer5 | |
| XM_011532799.1:c.2609_2610del (MSH6) | XP_011531101.1:p.Tyr870LeufsTer5 | |
| XM_011532800.1:c.2609_2610del (MSH6) | XP_011531102.1:p.Tyr870LeufsTer5 | |
| XM_024452819.1:c.2906_2907del (MSH6) | XP_024308587.1:p.Tyr969LeufsTer5 | |
| XM_024452820.1:c.2723_2724del (MSH6) | XP_024308588.1:p.Tyr908LeufsTer5 | |
| XM_024452821.1:c.2609_2610del (MSH6) | XP_024308589.1:p.Tyr870LeufsTer5 | |
| XM_024452822.1:c.2000_2001del (MSH6) | XP_024308590.1:p.Tyr667LeufsTer5 | |
| NM_000179.3:c.2906_2907del (MSH6) MANE Select | NP_000170.1:p.Tyr969LeufsTer5 | |
| NM_001281492.2:c.2516_2517del (MSH6) | NP_001268421.1:p.Tyr839LeufsTer5 | |
| NM_001281493.2:c.2000_2001del (MSH6) | NP_001268422.1:p.Tyr667LeufsTer5 | |
| NM_001281494.2:c.2000_2001del (MSH6) | NP_001268423.1:p.Tyr667LeufsTer5 |