Linked Data
ClinVar Variation Id:
142597
dbSNP Id:
rs587782576
ExAC:
2:48026592 AATG / A
gnomAD v2:
2-48026592-AATG-A
gnomAD v3:
2-47799453-AATG-A
gnomAD v4:
2-47799453-AATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799457_47799459del , CM000664.2:g.47799457_47799459del | GRCh38 |
| NC_000002.11:g.48026596_48026598del , CM000664.1:g.48026596_48026598del | GRCh37 |
| NC_000002.10:g.47880100_47880102del | NCBI36 |
| NG_007111.1:g.21311_21313del , LRG_219:g.21311_21313del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.1177_1179del (MSH6) | ENSP00000406248.2:p.Met393del | |
| ENST00000420813.6:c.1177_1179del (MSH6) | ENSP00000390382.2:p.Met393del | |
| ENST00000455383.6:c.1177_1179del (MSH6) | ENSP00000397484.2:p.Met393del | |
| ENST00000700004.2:c.1474_1476del (MSH6) | ENSP00000514752.2:p.Met492del | |
| ENST00000699999.1:n.1558_1560del (MSH6) | ||
| ENST00000700000.1:c.1474_1476del (MSH6) | ENSP00000514749.1:p.Met492del | |
| ENST00000700002.1:c.1480_1482del (MSH6) | ENSP00000514750.1:p.Met494del | |
| ENST00000700003.1:c.627+3394_627+3396del (MSH6) | ENSP00000514751.1:n.627+3394_627+3396del | |
| ENST00000700004.1:c.631_633del (MSH6) | ENSP00000514752.1:p.Met211del | |
| ENST00000234420.11:c.1474_1476del (MSH6) MANE Select | ENSP00000234420.5:p.Met492del | |
| ENST00000540021.6:c.1084_1086del (MSH6) | ENSP00000446475.1:p.Met362del | |
| ENST00000652107.1:c.1177_1179del (MSH6) | ENSP00000498629.1:p.Met393del | |
| ENST00000673637.1:c.1177_1179del (MSH6) | ENSP00000501310.1:p.Met393del | |
| ENST00000234420.9:c.1474_1476del (MSH6) | ENSP00000234420.4:p.Met492del | |
| ENST00000405808.5:c.169+8739_169+8741del (FBXO11) | ENSP00000385127.1:n.169+8739_169+8741del | |
| ENST00000434234.5:c.*124+8538_*124+8540del (FBXO11) | ENSP00000402692.1:n.*124+8538_*124+8540del | |
| ENST00000445503.5:c.*821_*823del (MSH6) | ENSP00000405294.1:n.*821_*823del | |
| ENST00000538136.1:c.568_570del (MSH6) | ENSP00000438580.1:p.Met190del | |
| ENST00000540021.5:c.1084_1086del (MSH6) | ENSP00000446475.1:p.Met362del | |
| ENST00000614496.4:c.568_570del (MSH6) | ENSP00000477844.1:p.Met190del | |
| ENST00000616033.4:c.1471_1473del (MSH6) | ENSP00000480261.1:p.Met491del | |
| ENST00000622629.4:c.-1623_-1621del (MSH6) | ENSP00000482078.1:n.-1623_-1621del | |
| NM_000179.2:c.1474_1476del , LRG_219t1:c.1474_1476del (MSH6) | NP_000170.1:p.Met492del | |
| NM_001281492.1:c.1084_1086del (MSH6) | NP_001268421.1:p.Met362del | |
| NM_001281493.1:c.568_570del (MSH6) | NP_001268422.1:p.Met190del | |
| NM_001281494.1:c.568_570del (MSH6) | NP_001268423.1:p.Met190del | |
| XM_005264271.1:c.1177_1179del (MSH6) | XP_005264328.1:p.Met393del | |
| XM_011532798.1:c.1291_1293del (MSH6) | XP_011531100.1:p.Met431del | |
| XM_011532799.1:c.1177_1179del (MSH6) | XP_011531101.1:p.Met393del | |
| XM_011532800.1:c.1177_1179del (MSH6) | XP_011531102.1:p.Met393del | |
| XM_024452819.1:c.1474_1476del (MSH6) | XP_024308587.1:p.Met492del | |
| XM_024452820.1:c.1291_1293del (MSH6) | XP_024308588.1:p.Met431del | |
| XM_024452821.1:c.1177_1179del (MSH6) | XP_024308589.1:p.Met393del | |
| XM_024452822.1:c.568_570del (MSH6) | XP_024308590.1:p.Met190del | |
| NM_000179.3:c.1474_1476del (MSH6) MANE Select | NP_000170.1:p.Met492del | |
| NM_001281492.2:c.1084_1086del (MSH6) | NP_001268421.1:p.Met362del | |
| NM_001281493.2:c.568_570del (MSH6) | NP_001268422.1:p.Met190del | |
| NM_001281494.2:c.568_570del (MSH6) | NP_001268423.1:p.Met190del |