Linked Data
ClinVar Variation Id:
89256
ClinVar RCV Id:
RCV000162408
RCV000202111
RCV000411212
RCV000524132
RCV000074720
RCV001353475
RCV003466940
RCV003447486
RCV002498357
dbSNP Id:
rs267608058
ExAC:
2:48027268 ACAGT / A
gnomAD v2:
2-48027268-ACAGT-A
gnomAD v3:
2-47800129-ACAGT-A
gnomAD v4:
2-47800129-ACAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47800133_47800136del , CM000664.2:g.47800133_47800136del | GRCh38 |
| NC_000002.11:g.48027272_48027275del , CM000664.1:g.48027272_48027275del | GRCh37 |
| NC_000002.10:g.47880776_47880779del | NCBI36 |
| NG_007111.1:g.21987_21990del , LRG_219:g.21987_21990del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.1853_1856del (MSH6) | ENSP00000406248.2:p.Val618AlafsTer18 | |
| ENST00000420813.6:c.1853_1856del (MSH6) | ENSP00000390382.2:p.Val618AlafsTer18 | |
| ENST00000455383.6:c.1853_1856del (MSH6) | ENSP00000397484.2:p.Val618AlafsTer18 | |
| ENST00000700004.2:c.2150_2153del (MSH6) | ENSP00000514752.2:p.Val717AlafsTer18 | |
| ENST00000699999.1:n.2234_2237del (MSH6) | ||
| ENST00000700000.1:c.1606+544_1606+547del (MSH6) | ENSP00000514749.1:n.1606+544_1606+547del | |
| ENST00000700002.1:c.2156_2159del (MSH6) | ENSP00000514750.1:p.Val719AlafsTer18 | |
| ENST00000700003.1:c.628-3287_628-3284del (MSH6) | ENSP00000514751.1:n.628-3287_628-3284del | |
| ENST00000700004.1:c.1307_1310del (MSH6) | ENSP00000514752.1:p.Val436AlafsTer18 | |
| ENST00000234420.11:c.2150_2153del (MSH6) MANE Select | ENSP00000234420.5:p.Val717AlafsTer18 | |
| ENST00000540021.6:c.1760_1763del (MSH6) | ENSP00000446475.1:p.Val587AlafsTer18 | |
| ENST00000652107.1:c.1853_1856del (MSH6) | ENSP00000498629.1:p.Val618AlafsTer18 | |
| ENST00000673637.1:c.1853_1856del (MSH6) | ENSP00000501310.1:p.Val618AlafsTer18 | |
| ENST00000234420.9:c.2150_2153del (MSH6) | ENSP00000234420.4:p.Val717AlafsTer18 | |
| ENST00000405808.5:c.169+8062_169+8065del (FBXO11) | ENSP00000385127.1:n.169+8062_169+8065del | |
| ENST00000434234.5:c.*124+7861_*124+7864del (FBXO11) | ENSP00000402692.1:n.*124+7861_*124+7864del | |
| ENST00000445503.5:c.*1497_*1500del (MSH6) | ENSP00000405294.1:n.*1497_*1500del | |
| ENST00000538136.1:c.1244_1247del (MSH6) | ENSP00000438580.1:p.Val415AlafsTer18 | |
| ENST00000540021.5:c.1760_1763del (MSH6) | ENSP00000446475.1:p.Val587AlafsTer18 | |
| ENST00000614496.4:c.1244_1247del (MSH6) | ENSP00000477844.1:p.Val415AlafsTer18 | |
| ENST00000616033.4:c.2147_2150del (MSH6) | ENSP00000480261.1:p.Val716AlafsTer18 | |
| ENST00000622629.4:c.-947_-944del (MSH6) | ENSP00000482078.1:n.-947_-944del | |
| NM_000179.2:c.2150_2153del , LRG_219t1:c.2150_2153del (MSH6) | NP_000170.1:p.Val717AlafsTer18 | |
| NM_001281492.1:c.1760_1763del (MSH6) | NP_001268421.1:p.Val587AlafsTer18 | |
| NM_001281493.1:c.1244_1247del (MSH6) | NP_001268422.1:p.Val415AlafsTer18 | |
| NM_001281494.1:c.1244_1247del (MSH6) | NP_001268423.1:p.Val415AlafsTer18 | |
| XM_005264271.1:c.1853_1856del (MSH6) | XP_005264328.1:p.Val618AlafsTer18 | |
| XM_011532798.1:c.1967_1970del (MSH6) | XP_011531100.1:p.Val656AlafsTer18 | |
| XM_011532799.1:c.1853_1856del (MSH6) | XP_011531101.1:p.Val618AlafsTer18 | |
| XM_011532800.1:c.1853_1856del (MSH6) | XP_011531102.1:p.Val618AlafsTer18 | |
| XM_024452819.1:c.2150_2153del (MSH6) | XP_024308587.1:p.Val717AlafsTer18 | |
| XM_024452820.1:c.1967_1970del (MSH6) | XP_024308588.1:p.Val656AlafsTer18 | |
| XM_024452821.1:c.1853_1856del (MSH6) | XP_024308589.1:p.Val618AlafsTer18 | |
| XM_024452822.1:c.1244_1247del (MSH6) | XP_024308590.1:p.Val415AlafsTer18 | |
| NM_000179.3:c.2150_2153del (MSH6) MANE Select | NP_000170.1:p.Val717AlafsTer18 | |
| NM_001281492.2:c.1760_1763del (MSH6) | NP_001268421.1:p.Val587AlafsTer18 | |
| NM_001281493.2:c.1244_1247del (MSH6) | NP_001268422.1:p.Val415AlafsTer18 | |
| NM_001281494.2:c.1244_1247del (MSH6) | NP_001268423.1:p.Val415AlafsTer18 |