Linked Data
ClinVar Variation Id:
234703
dbSNP Id:
rs876661171
gnomAD v2:
2-48033577-TTTTC-T
gnomAD v4:
2-47806438-TTTTC-T
COSMIC:
COSM4774760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806445_47806448del , CM000664.2:g.47806445_47806448del | GRCh38 |
| NC_000002.11:g.48033584_48033587del , CM000664.1:g.48033584_48033587del | GRCh37 |
| NC_000002.10:g.47887088_47887091del | NCBI36 |
| NG_007111.1:g.28299_28302del , LRG_219:g.28299_28302del | |
| NG_008397.1:g.104234_104237del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3505-7_3505-4del (MSH6) | ENSP00000406248.2:n.3505-7_3505-4del | |
| ENST00000420813.6:c.3505-7_3505-4del (MSH6) | ENSP00000390382.2:n.3505-7_3505-4del | |
| ENST00000455383.6:c.3505-7_3505-4del (MSH6) | ENSP00000397484.2:n.3505-7_3505-4del | |
| ENST00000700004.2:c.3418-7_3418-4del (MSH6) | ENSP00000514752.2:n.3418-7_3418-4del | |
| ENST00000699999.1:n.4476-7_4476-4del (MSH6) | ||
| ENST00000700000.1:c.2236-7_2236-4del (MSH6) | ENSP00000514749.1:n.2236-7_2236-4del | |
| ENST00000700002.1:c.3808-7_3808-4del (MSH6) | ENSP00000514750.1:n.3808-7_3808-4del | |
| ENST00000700003.1:c.1257-7_1257-4del (MSH6) | ENSP00000514751.1:n.1257-7_1257-4del | |
| ENST00000700004.1:c.2575-7_2575-4del (MSH6) | ENSP00000514752.1:n.2575-7_2575-4del | |
| ENST00000700005.1:n.2653-7_2653-4del (MSH6) | ||
| ENST00000700006.1:n.4960-7_4960-4del (MSH6) | ||
| ENST00000700007.1:n.2397-7_2397-4del (MSH6) | ||
| ENST00000700008.1:n.2057_2060del (MSH6) | ||
| ENST00000700009.1:n.2466-7_2466-4del (MSH6) | ||
| ENST00000700010.1:n.1211-7_1211-4del (MSH6) | ||
| ENST00000700011.1:n.3096-7_3096-4del (MSH6) | ||
| ENST00000682451.1:n.4306_4309del (FBXO11) | ||
| ENST00000684712.1:n.4568_4571del (FBXO11) | ||
| ENST00000234420.11:c.3802-7_3802-4del (MSH6) MANE Select | ENSP00000234420.5:n.3802-7_3802-4del | |
| ENST00000540021.6:c.3412-7_3412-4del (MSH6) | ENSP00000446475.1:n.3412-7_3412-4del | |
| ENST00000652107.1:c.3505-7_3505-4del (MSH6) | ENSP00000498629.1:n.3505-7_3505-4del | |
| ENST00000673637.1:c.3505-7_3505-4del (MSH6) | ENSP00000501310.1:n.3505-7_3505-4del | |
| ENST00000234420.9:c.3802-7_3802-4del (MSH6) | ENSP00000234420.4:n.3802-7_3802-4del | |
| ENST00000405808.5:c.169+1753_169+1756del (FBXO11) | ENSP00000385127.1:n.169+1753_169+1756del | |
| ENST00000434234.5:c.*124+1552_*124+1555del (FBXO11) | ENSP00000402692.1:n.*124+1552_*124+1555del | |
| ENST00000445503.5:c.*3149-7_*3149-4del (MSH6) | ENSP00000405294.1:n.*3149-7_*3149-4del | |
| ENST00000538136.1:c.2896-7_2896-4del (MSH6) | ENSP00000438580.1:n.2896-7_2896-4del | |
| ENST00000540021.5:c.3412-7_3412-4del (MSH6) | ENSP00000446475.1:n.3412-7_3412-4del | |
| ENST00000614496.4:c.2896-7_2896-4del (MSH6) | ENSP00000477844.1:n.2896-7_2896-4del | |
| ENST00000622629.4:c.703-7_703-4del (MSH6) | ENSP00000482078.1:n.703-7_703-4del | |
| NM_000179.2:c.3802-7_3802-4del , LRG_219t1:c.3802-7_3802-4del (MSH6) | NP_000170.1:n.3802-7_3802-4del | |
| NM_001281492.1:c.3412-7_3412-4del (MSH6) | NP_001268421.1:n.3412-7_3412-4del | |
| NM_001281493.1:c.2896-7_2896-4del (MSH6) | NP_001268422.1:n.2896-7_2896-4del | |
| NM_001281494.1:c.2896-7_2896-4del (MSH6) | NP_001268423.1:n.2896-7_2896-4del | |
| XM_005264271.1:c.3505-7_3505-4del (MSH6) | XP_005264328.1:n.3505-7_3505-4del | |
| XM_011532798.1:c.3619-7_3619-4del (MSH6) | XP_011531100.1:n.3619-7_3619-4del | |
| XM_011532799.1:c.3505-7_3505-4del (MSH6) | XP_011531101.1:n.3505-7_3505-4del | |
| XM_011532800.1:c.3505-7_3505-4del (MSH6) | XP_011531102.1:n.3505-7_3505-4del | |
| XM_024452819.1:c.3888_3891del (MSH6) | XP_024308587.1:p.Phe1296LeufsTer6 | |
| XM_024452820.1:c.3705_3708del (MSH6) | XP_024308588.1:p.Phe1235LeufsTer6 | |
| XM_024452821.1:c.3591_3594del (MSH6) | XP_024308589.1:p.Phe1197LeufsTer6 | |
| XM_024452822.1:c.2982_2985del (MSH6) | XP_024308590.1:p.Phe994LeufsTer6 | |
| NM_000179.3:c.3802-7_3802-4del (MSH6) MANE Select | NP_000170.1:n.3802-7_3802-4del | |
| NM_001281492.2:c.3412-7_3412-4del (MSH6) | NP_001268421.1:n.3412-7_3412-4del | |
| NM_001281493.2:c.2896-7_2896-4del (MSH6) | NP_001268422.1:n.2896-7_2896-4del | |
| NM_001281494.2:c.2896-7_2896-4del (MSH6) | NP_001268423.1:n.2896-7_2896-4del |