Linked Data
dbSNP Id:
rs1343704628
gnomAD v2:
2-48033178-GGCT-G
gnomAD v3:
2-47806039-GGCT-G
gnomAD v4:
2-47806039-GGCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806043_47806045del , CM000664.2:g.47806043_47806045del | GRCh38 |
| NC_000002.11:g.48033182_48033184del , CM000664.1:g.48033182_48033184del | GRCh37 |
| NC_000002.10:g.47886686_47886688del | NCBI36 |
| NG_007111.1:g.27897_27899del , LRG_219:g.27897_27899del | |
| NG_008397.1:g.104634_104636del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3350-161_3350-159del (MSH6) | ENSP00000406248.2:n.3350-161_3350-159del | |
| ENST00000420813.6:c.3350-161_3350-159del (MSH6) | ENSP00000390382.2:n.3350-161_3350-159del | |
| ENST00000455383.6:c.3350-161_3350-159del (MSH6) | ENSP00000397484.2:n.3350-161_3350-159del | |
| ENST00000700004.2:c.3263-161_3263-159del (MSH6) | ENSP00000514752.2:n.3263-161_3263-159del | |
| ENST00000699999.1:n.4321-161_4321-159del (MSH6) | ||
| ENST00000700000.1:c.2081-161_2081-159del (MSH6) | ENSP00000514749.1:n.2081-161_2081-159del | |
| ENST00000700002.1:c.3653-161_3653-159del (MSH6) | ENSP00000514750.1:n.3653-161_3653-159del | |
| ENST00000700003.1:c.1102-161_1102-159del (MSH6) | ENSP00000514751.1:n.1102-161_1102-159del | |
| ENST00000700004.1:c.2420-161_2420-159del (MSH6) | ENSP00000514752.1:n.2420-161_2420-159del | |
| ENST00000700005.1:n.2498-161_2498-159del (MSH6) | ||
| ENST00000700006.1:n.4644_4646del (MSH6) | ||
| ENST00000700007.1:n.2242-161_2242-159del (MSH6) | ||
| ENST00000700008.1:n.1816-161_1816-159del (MSH6) | ||
| ENST00000700009.1:n.2150_2152del (MSH6) | ||
| ENST00000700010.1:n.1056-161_1056-159del (MSH6) | ||
| ENST00000700011.1:n.2941-161_2941-159del (MSH6) | ||
| ENST00000234420.11:c.3647-161_3647-159del (MSH6) MANE Select | ENSP00000234420.5:n.3647-161_3647-159del | |
| ENST00000540021.6:c.3257-161_3257-159del (MSH6) | ENSP00000446475.1:n.3257-161_3257-159del | |
| ENST00000652107.1:c.3350-161_3350-159del (MSH6) | ENSP00000498629.1:n.3350-161_3350-159del | |
| ENST00000673637.1:c.3350-161_3350-159del (MSH6) | ENSP00000501310.1:n.3350-161_3350-159del | |
| ENST00000234420.9:c.3647-161_3647-159del (MSH6) | ENSP00000234420.4:n.3647-161_3647-159del | |
| ENST00000405808.5:c.169+2153_169+2155del (FBXO11) | ENSP00000385127.1:n.169+2153_169+2155del | |
| ENST00000434234.5:c.*124+1952_*124+1954del (FBXO11) | ENSP00000402692.1:n.*124+1952_*124+1954del | |
| ENST00000445503.5:c.*2994-161_*2994-159del (MSH6) | ENSP00000405294.1:n.*2994-161_*2994-159del | |
| ENST00000538136.1:c.2741-161_2741-159del (MSH6) | ENSP00000438580.1:n.2741-161_2741-159del | |
| ENST00000540021.5:c.3257-161_3257-159del (MSH6) | ENSP00000446475.1:n.3257-161_3257-159del | |
| ENST00000614496.4:c.2741-161_2741-159del (MSH6) | ENSP00000477844.1:n.2741-161_2741-159del | |
| ENST00000622629.4:c.551-161_551-159del (MSH6) | ENSP00000482078.1:n.551-161_551-159del | |
| NM_000179.2:c.3647-161_3647-159del , LRG_219t1:c.3647-161_3647-159del (MSH6) | NP_000170.1:n.3647-161_3647-159del | |
| NM_001281492.1:c.3257-161_3257-159del (MSH6) | NP_001268421.1:n.3257-161_3257-159del | |
| NM_001281493.1:c.2741-161_2741-159del (MSH6) | NP_001268422.1:n.2741-161_2741-159del | |
| NM_001281494.1:c.2741-161_2741-159del (MSH6) | NP_001268423.1:n.2741-161_2741-159del | |
| XM_005264271.1:c.3350-161_3350-159del (MSH6) | XP_005264328.1:n.3350-161_3350-159del | |
| XM_011532798.1:c.3464-161_3464-159del (MSH6) | XP_011531100.1:n.3464-161_3464-159del | |
| XM_011532799.1:c.3350-161_3350-159del (MSH6) | XP_011531101.1:n.3350-161_3350-159del | |
| XM_011532800.1:c.3350-161_3350-159del (MSH6) | XP_011531102.1:n.3350-161_3350-159del | |
| XM_024452819.1:c.3647-161_3647-159del (MSH6) | XP_024308587.1:n.3647-161_3647-159del | |
| XM_024452820.1:c.3464-161_3464-159del (MSH6) | XP_024308588.1:n.3464-161_3464-159del | |
| XM_024452821.1:c.3350-161_3350-159del (MSH6) | XP_024308589.1:n.3350-161_3350-159del | |
| XM_024452822.1:c.2741-161_2741-159del (MSH6) | XP_024308590.1:n.2741-161_2741-159del | |
| NM_000179.3:c.3647-161_3647-159del (MSH6) MANE Select | NP_000170.1:n.3647-161_3647-159del | |
| NM_001281492.2:c.3257-161_3257-159del (MSH6) | NP_001268421.1:n.3257-161_3257-159del | |
| NM_001281493.2:c.2741-161_2741-159del (MSH6) | NP_001268422.1:n.2741-161_2741-159del | |
| NM_001281494.2:c.2741-161_2741-159del (MSH6) | NP_001268423.1:n.2741-161_2741-159del |