Linked Data
ClinVar Variation Id:
491960
dbSNP Id:
rs1553333168
gnomAD v4:
2-47806352-ACATATGGTATGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806355_47806367del , CM000664.2:g.47806355_47806367del | GRCh38 |
| NC_000002.11:g.48033494_48033506del , CM000664.1:g.48033494_48033506del | GRCh37 |
| NC_000002.10:g.47886998_47887010del | NCBI36 |
| NG_007111.1:g.28209_28221del , LRG_219:g.28209_28221del | |
| NG_008397.1:g.104311_104323del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3501_3504+9del (MSH6) | ||
| ENST00000420813.6:c.3501_3504+9del (MSH6) | ||
| ENST00000455383.6:c.3501_3504+9del (MSH6) | ||
| ENST00000700004.2:c.3414_3417+9del (MSH6) | ||
| ENST00000699999.1:n.4472_4475+9del (MSH6) | ||
| ENST00000700000.1:c.2232_2235+9del (MSH6) | ||
| ENST00000700002.1:c.3804_3807+9del (MSH6) | ||
| ENST00000700003.1:c.1253_1256+9del (MSH6) | ||
| ENST00000700004.1:c.2571_2574+9del (MSH6) | ||
| ENST00000700005.1:n.2649_2652+9del (MSH6) | ||
| ENST00000700006.1:n.4956_4959+9del (MSH6) | ||
| ENST00000700007.1:n.2393_2396+9del (MSH6) | ||
| ENST00000700008.1:n.1967_1979del (MSH6) | ||
| ENST00000700009.1:n.2462_2465+9del (MSH6) | ||
| ENST00000700010.1:n.1207_1210+9del (MSH6) | ||
| ENST00000700011.1:n.3092_3095+9del (MSH6) | ||
| ENST00000682451.1:n.4383_4395del (FBXO11) | ||
| ENST00000684712.1:n.4645_4657del (FBXO11) | ||
| ENST00000234420.11:c.3798_3801+9del (MSH6) | ||
| ENST00000540021.6:c.3408_3411+9del (MSH6) | ||
| ENST00000652107.1:c.3501_3504+9del (MSH6) | ||
| ENST00000673637.1:c.3501_3504+9del (MSH6) | ||
| ENST00000234420.9:c.3798_3801+9del (MSH6) | ||
| ENST00000405808.5:c.169+1830_169+1842del (FBXO11) | ENSP00000385127.1:n.169+1830_169+1842del | |
| ENST00000434234.5:c.*124+1629_*124+1641del (FBXO11) | ENSP00000402692.1:n.*124+1629_*124+1641de... | |
| ENST00000445503.5:c.*3145_*3148+9del (MSH6) | ||
| ENST00000538136.1:c.2892_2895+9del (MSH6) | ||
| ENST00000540021.5:c.3408_3411+9del (MSH6) | ||
| ENST00000614496.4:c.2892_2895+9del (MSH6) | ||
| ENST00000622629.4:c.699_702+9del (MSH6) | ||
| NM_000179.2:c.3798_3801+9del , LRG_219t1:c.3798_3801+9del (MSH6) | ||
| NM_001281492.1:c.3408_3411+9del (MSH6) | ||
| NM_001281493.1:c.2892_2895+9del (MSH6) | ||
| NM_001281494.1:c.2892_2895+9del (MSH6) | ||
| XM_005264271.1:c.3501_3504+9del (MSH6) | ||
| XM_011532798.1:c.3615_3618+9del (MSH6) | ||
| XM_011532799.1:c.3501_3504+9del (MSH6) | ||
| XM_011532800.1:c.3501_3504+9del (MSH6) | ||
| XM_024452819.1:c.3798_3810del (MSH6) | XP_024308587.1:p.His1266GlnfsTer18 | |
| XM_024452820.1:c.3615_3627del (MSH6) | XP_024308588.1:p.His1205GlnfsTer18 | |
| XM_024452821.1:c.3501_3513del (MSH6) | XP_024308589.1:p.His1167GlnfsTer18 | |
| XM_024452822.1:c.2892_2904del (MSH6) | XP_024308590.1:p.His964GlnfsTer18 | |
| NM_000179.3:c.3798_3801+9del (MSH6) | ||
| NM_001281492.2:c.3408_3411+9del (MSH6) | ||
| NM_001281493.2:c.2892_2895+9del (MSH6) | ||
| NM_001281494.2:c.2892_2895+9del (MSH6) |