Linked Data
dbSNP Id:
rs761663077
ExAC:
2:48032004 CTG / C
gnomAD v2:
2-48032004-CTG-C
gnomAD v4:
2-47804865-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47804867_47804868del , CM000664.2:g.47804867_47804868del | GRCh38 |
| NC_000002.11:g.48032006_48032007del , CM000664.1:g.48032006_48032007del | GRCh37 |
| NC_000002.10:g.47885510_47885511del | NCBI36 |
| NG_007111.1:g.26721_26722del , LRG_219:g.26721_26722del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3142-43_3142-42del (MSH6) | ENSP00000406248.2:n.3142-43_3142-42del | |
| ENST00000420813.6:c.3142-43_3142-42del (MSH6) | ENSP00000390382.2:n.3142-43_3142-42del | |
| ENST00000455383.6:c.3142-43_3142-42del (MSH6) | ENSP00000397484.2:n.3142-43_3142-42del | |
| ENST00000700004.2:c.3173-751_3173-750del (MSH6) | ENSP00000514752.2:n.3173-751_3173-750del | |
| ENST00000699999.1:n.3523-43_3523-42del (MSH6) | ||
| ENST00000700000.1:c.1873-43_1873-42del (MSH6) | ENSP00000514749.1:n.1873-43_1873-42del | |
| ENST00000700002.1:c.3445-43_3445-42del (MSH6) | ENSP00000514750.1:n.3445-43_3445-42del | |
| ENST00000700003.1:c.894-43_894-42del (MSH6) | ENSP00000514751.1:n.894-43_894-42del | |
| ENST00000700004.1:c.2330-751_2330-750del (MSH6) | ENSP00000514752.1:n.2330-751_2330-750del | |
| ENST00000700005.1:n.2290-43_2290-42del (MSH6) | ||
| ENST00000700006.1:n.3468_3469del (MSH6) | ||
| ENST00000700007.1:n.1444-43_1444-42del (MSH6) | ||
| ENST00000700008.1:n.1018-43_1018-42del (MSH6) | ||
| ENST00000700009.1:n.1017-43_1017-42del (MSH6) | ||
| ENST00000700010.1:n.848-43_848-42del (MSH6) | ||
| ENST00000700011.1:n.2100_2101del (MSH6) | ||
| ENST00000234420.11:c.3439-43_3439-42del (MSH6) MANE Select | ENSP00000234420.5:n.3439-43_3439-42del | |
| ENST00000540021.6:c.3049-43_3049-42del (MSH6) | ENSP00000446475.1:n.3049-43_3049-42del | |
| ENST00000652107.1:c.3142-43_3142-42del (MSH6) | ENSP00000498629.1:n.3142-43_3142-42del | |
| ENST00000673637.1:c.3142-43_3142-42del (MSH6) | ENSP00000501310.1:n.3142-43_3142-42del | |
| ENST00000234420.9:c.3439-43_3439-42del (MSH6) | ENSP00000234420.4:n.3439-43_3439-42del | |
| ENST00000405808.5:c.169+3328_169+3329del (FBXO11) | ENSP00000385127.1:n.169+3328_169+3329del | |
| ENST00000434234.5:c.*124+3127_*124+3128del (FBXO11) | ENSP00000402692.1:n.*124+3127_*124+3128del | |
| ENST00000445503.5:c.*2786-43_*2786-42del (MSH6) | ENSP00000405294.1:n.*2786-43_*2786-42del | |
| ENST00000538136.1:c.2533-43_2533-42del (MSH6) | ENSP00000438580.1:n.2533-43_2533-42del | |
| ENST00000540021.5:c.3049-43_3049-42del (MSH6) | ENSP00000446475.1:n.3049-43_3049-42del | |
| ENST00000614496.4:c.2533-43_2533-42del (MSH6) | ENSP00000477844.1:n.2533-43_2533-42del | |
| ENST00000622629.4:c.335-35_335-34del (MSH6) | ENSP00000482078.1:n.335-35_335-34del | |
| NM_000179.2:c.3439-43_3439-42del , LRG_219t1:c.3439-43_3439-42del (MSH6) | NP_000170.1:n.3439-43_3439-42del | |
| NM_001281492.1:c.3049-43_3049-42del (MSH6) | NP_001268421.1:n.3049-43_3049-42del | |
| NM_001281493.1:c.2533-43_2533-42del (MSH6) | NP_001268422.1:n.2533-43_2533-42del | |
| NM_001281494.1:c.2533-43_2533-42del (MSH6) | NP_001268423.1:n.2533-43_2533-42del | |
| XM_005264271.1:c.3142-43_3142-42del (MSH6) | XP_005264328.1:n.3142-43_3142-42del | |
| XM_011532798.1:c.3256-43_3256-42del (MSH6) | XP_011531100.1:n.3256-43_3256-42del | |
| XM_011532799.1:c.3142-43_3142-42del (MSH6) | XP_011531101.1:n.3142-43_3142-42del | |
| XM_011532800.1:c.3142-43_3142-42del (MSH6) | XP_011531102.1:n.3142-43_3142-42del | |
| XM_024452819.1:c.3439-43_3439-42del (MSH6) | XP_024308587.1:n.3439-43_3439-42del | |
| XM_024452820.1:c.3256-43_3256-42del (MSH6) | XP_024308588.1:n.3256-43_3256-42del | |
| XM_024452821.1:c.3142-43_3142-42del (MSH6) | XP_024308589.1:n.3142-43_3142-42del | |
| XM_024452822.1:c.2533-43_2533-42del (MSH6) | XP_024308590.1:n.2533-43_2533-42del | |
| NM_000179.3:c.3439-43_3439-42del (MSH6) MANE Select | NP_000170.1:n.3439-43_3439-42del | |
| NM_001281492.2:c.3049-43_3049-42del (MSH6) | NP_001268421.1:n.3049-43_3049-42del | |
| NM_001281493.2:c.2533-43_2533-42del (MSH6) | NP_001268422.1:n.2533-43_2533-42del | |
| NM_001281494.2:c.2533-43_2533-42del (MSH6) | NP_001268423.1:n.2533-43_2533-42del |