Linked Data
gnomAD v2:
2-48032753-TAAGGTGAAAGTACA-T
gnomAD v3:
2-47805614-TAAGGTGAAAGTACA-T
gnomAD v4:
2-47805614-TAAGGTGAAAGTACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805615_47805628del , CM000664.2:g.47805615_47805628del | GRCh38 |
| NC_000002.11:g.48032754_48032767del , CM000664.1:g.48032754_48032767del | GRCh37 |
| NC_000002.10:g.47886258_47886271del | NCBI36 |
| NG_007111.1:g.27469_27482del , LRG_219:g.27469_27482del | |
| NG_008397.1:g.105048_105061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3260-3_3270del (MSH6) | ||
| ENST00000420813.6:c.3260-3_3270del (MSH6) | ||
| ENST00000455383.6:c.3260-3_3270del (MSH6) | ||
| ENST00000700004.2:c.3173-3_3183del (MSH6) | ||
| ENST00000699999.1:n.4228_4241del (MSH6) | ||
| ENST00000700000.1:c.1991-3_2001del (MSH6) | ||
| ENST00000700002.1:c.3563-3_3573del (MSH6) | ||
| ENST00000700003.1:c.1012-3_1022del (MSH6) | ||
| ENST00000700004.1:c.2330-3_2340del (MSH6) | ||
| ENST00000700005.1:n.2408-3_2418del (MSH6) | ||
| ENST00000700006.1:n.4216_4229del (MSH6) | ||
| ENST00000700007.1:n.2149_2162del (MSH6) | ||
| ENST00000700008.1:n.1723_1736del (MSH6) | ||
| ENST00000700009.1:n.1722_1735del (MSH6) | ||
| ENST00000700010.1:n.966-3_976del (MSH6) | ||
| ENST00000700011.1:n.2848_2861del (MSH6) | ||
| ENST00000234420.11:c.3557-3_3567del (MSH6) | ||
| ENST00000540021.6:c.3167-3_3177del (MSH6) | ||
| ENST00000652107.1:c.3260-3_3270del (MSH6) | ||
| ENST00000673637.1:c.3260-3_3270del (MSH6) | ||
| ENST00000234420.9:c.3557-3_3567del (MSH6) | ||
| ENST00000405808.5:c.169+2567_169+2580del (FBXO11) | ENSP00000385127.1:n.169+2567_169+2580del | |
| ENST00000434234.5:c.*124+2366_*124+2379del (FBXO11) | ENSP00000402692.1:n.*124+2366_*124+2379del | |
| ENST00000445503.5:c.*2904-3_*2914del (MSH6) | ||
| ENST00000538136.1:c.2651-3_2661del (MSH6) | ||
| ENST00000540021.5:c.3167-3_3177del (MSH6) | ||
| ENST00000614496.4:c.2651-3_2661del (MSH6) | ||
| ENST00000622629.4:c.461-3_471del (MSH6) | ||
| NM_000179.2:c.3557-3_3567del , LRG_219t1:c.3557-3_3567del (MSH6) | ||
| NM_001281492.1:c.3167-3_3177del (MSH6) | ||
| NM_001281493.1:c.2651-3_2661del (MSH6) | ||
| NM_001281494.1:c.2651-3_2661del (MSH6) | ||
| XM_005264271.1:c.3260-3_3270del (MSH6) | ||
| XM_011532798.1:c.3374-3_3384del (MSH6) | ||
| XM_011532799.1:c.3260-3_3270del (MSH6) | ||
| XM_011532800.1:c.3260-3_3270del (MSH6) | ||
| XM_024452819.1:c.3557-3_3567del (MSH6) | ||
| XM_024452820.1:c.3374-3_3384del (MSH6) | ||
| XM_024452821.1:c.3260-3_3270del (MSH6) | ||
| XM_024452822.1:c.2651-3_2661del (MSH6) | ||
| NM_000179.3:c.3557-3_3567del (MSH6) | ||
| NM_001281492.2:c.3167-3_3177del (MSH6) | ||
| NM_001281493.2:c.2651-3_2661del (MSH6) | ||
| NM_001281494.2:c.2651-3_2661del (MSH6) |