Linked Data
ClinVar Variation Id:
218070
ClinVar RCV Id:
RCV000202077
RCV000491301
RCV000533181
RCV000657120
RCV001375485
RCV003462357
RCV003997048
dbSNP Id:
rs863225412
gnomAD v2:
2-48033435-ACTCACTACCATTCATTAGTAGAAGATTATT-A
gnomAD v3:
2-47806296-ACTCACTACCATTCATTAGTAGAAGATTATT-A
gnomAD v4:
2-47806296-ACTCACTACCATTCATTAGTAGAAGATTATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806301_47806330del , CM000664.2:g.47806301_47806330del | GRCh38 |
| NC_000002.11:g.48033440_48033469del , CM000664.1:g.48033440_48033469del | GRCh37 |
| NC_000002.10:g.47886944_47886973del | NCBI36 |
| NG_007111.1:g.28155_28184del , LRG_219:g.28155_28184del | |
| NG_008397.1:g.104350_104379del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3447_3476del (MSH6) | ENSP00000406248.2:p.His1149_Ser1158del | |
| ENST00000420813.6:c.3447_3476del (MSH6) | ENSP00000390382.2:p.His1149_Ser1158del | |
| ENST00000455383.6:c.3447_3476del (MSH6) | ENSP00000397484.2:p.His1149_Ser1158del | |
| ENST00000700004.2:c.3360_3389del (MSH6) | ENSP00000514752.2:p.His1120_Ser1129del | |
| ENST00000699999.1:n.4418_4447del (MSH6) | ||
| ENST00000700000.1:c.2178_2207del (MSH6) | ENSP00000514749.1:p.His726_Ser735del | |
| ENST00000700002.1:c.3750_3779del (MSH6) | ENSP00000514750.1:p.His1250_Ser1259del | |
| ENST00000700003.1:c.1199_1228del (MSH6) | ENSP00000514751.1:n.1199_1228del | |
| ENST00000700004.1:c.2517_2546del (MSH6) | ENSP00000514752.1:p.His839_Ser848del | |
| ENST00000700005.1:n.2595_2624del (MSH6) | ||
| ENST00000700006.1:n.4902_4931del (MSH6) | ||
| ENST00000700007.1:n.2339_2368del (MSH6) | ||
| ENST00000700008.1:n.1913_1942del (MSH6) | ||
| ENST00000700009.1:n.2408_2437del (MSH6) | ||
| ENST00000700010.1:n.1153_1182del (MSH6) | ||
| ENST00000700011.1:n.3038_3067del (MSH6) | ||
| ENST00000682451.1:n.4422_4451del (FBXO11) | ||
| ENST00000684712.1:n.4684_4713del (FBXO11) | ||
| ENST00000234420.11:c.3744_3773del (MSH6) MANE Select | ENSP00000234420.5:p.His1248_Ser1257del | |
| ENST00000540021.6:c.3354_3383del (MSH6) | ENSP00000446475.1:p.His1118_Ser1127del | |
| ENST00000652107.1:c.3447_3476del (MSH6) | ENSP00000498629.1:p.His1149_Ser1158del | |
| ENST00000673637.1:c.3447_3476del (MSH6) | ENSP00000501310.1:p.His1149_Ser1158del | |
| ENST00000234420.9:c.3744_3773del (MSH6) | ENSP00000234420.4:p.His1248_Ser1257del | |
| ENST00000405808.5:c.169+1869_169+1898del (FBXO11) | ENSP00000385127.1:n.169+1869_169+1898del | |
| ENST00000434234.5:c.*124+1668_*124+1697del (FBXO11) | ENSP00000402692.1:n.*124+1668_*124+1697del | |
| ENST00000445503.5:c.*3091_*3120del (MSH6) | ENSP00000405294.1:n.*3091_*3120del | |
| ENST00000538136.1:c.2838_2867del (MSH6) | ENSP00000438580.1:p.His946_Ser955del | |
| ENST00000540021.5:c.3354_3383del (MSH6) | ENSP00000446475.1:p.His1118_Ser1127del | |
| ENST00000614496.4:c.2838_2867del (MSH6) | ENSP00000477844.1:p.His946_Ser955del | |
| ENST00000622629.4:c.648_675del (MSH6) | ||
| NM_000179.2:c.3744_3773del , LRG_219t1:c.3744_3773del (MSH6) | NP_000170.1:p.His1248_Ser1257del | |
| NM_001281492.1:c.3354_3383del (MSH6) | NP_001268421.1:p.His1118_Ser1127del | |
| NM_001281493.1:c.2838_2867del (MSH6) | NP_001268422.1:p.His946_Ser955del | |
| NM_001281494.1:c.2838_2867del (MSH6) | NP_001268423.1:p.His946_Ser955del | |
| XM_005264271.1:c.3447_3476del (MSH6) | XP_005264328.1:p.His1149_Ser1158del | |
| XM_011532798.1:c.3561_3590del (MSH6) | XP_011531100.1:p.His1187_Ser1196del | |
| XM_011532799.1:c.3447_3476del (MSH6) | XP_011531101.1:p.His1149_Ser1158del | |
| XM_011532800.1:c.3447_3476del (MSH6) | XP_011531102.1:p.His1149_Ser1158del | |
| XM_024452819.1:c.3744_3773del (MSH6) | XP_024308587.1:p.His1248_Ser1257del | |
| XM_024452820.1:c.3561_3590del (MSH6) | XP_024308588.1:p.His1187_Ser1196del | |
| XM_024452821.1:c.3447_3476del (MSH6) | XP_024308589.1:p.His1149_Ser1158del | |
| XM_024452822.1:c.2838_2867del (MSH6) | XP_024308590.1:p.His946_Ser955del | |
| NM_000179.3:c.3744_3773del (MSH6) MANE Select | NP_000170.1:p.His1248_Ser1257del | |
| NM_001281492.2:c.3354_3383del (MSH6) | NP_001268421.1:p.His1118_Ser1127del | |
| NM_001281493.2:c.2838_2867del (MSH6) | NP_001268422.1:p.His946_Ser955del | |
| NM_001281494.2:c.2838_2867del (MSH6) | NP_001268423.1:p.His946_Ser955del |