Linked Data
ClinVar Variation Id:
580297
dbSNP Id:
rs774984690
ExAC:
2:48033719 G / GGAA
gnomAD v2:
2-48033719-G-GGAA
gnomAD v4:
2-47806580-G-GGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806582_47806584dup , CM000664.2:g.47806582_47806584dup | GRCh38 |
| NC_000002.11:g.48033721_48033723dup , CM000664.1:g.48033721_48033723dup | GRCh37 |
| NC_000002.10:g.47887225_47887227dup | NCBI36 |
| NG_007111.1:g.28436_28438dup , LRG_219:g.28436_28438dup | |
| NG_008397.1:g.104093_104095dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3635_3637dup (MSH6) | ENSP00000406248.2:p.Glu1212_Val1213insGlu | |
| ENST00000420813.6:c.3635_3637dup (MSH6) | ENSP00000390382.2:p.Glu1212_Val1213insGlu | |
| ENST00000455383.6:c.3635_3637dup (MSH6) | ENSP00000397484.2:p.Glu1212_Val1213insGlu | |
| ENST00000700004.2:c.3548_3550dup (MSH6) | ENSP00000514752.2:p.Glu1183_Val1184insGlu | |
| ENST00000699999.1:n.4606_4608dup (MSH6) | ||
| ENST00000700000.1:c.2366_2368dup (MSH6) | ENSP00000514749.1:p.Glu789_Val790insGlu | |
| ENST00000700002.1:c.3938_3940dup (MSH6) | ENSP00000514750.1:p.Glu1313_Val1314insGlu | |
| ENST00000700003.1:c.1387_1389dup (MSH6) | ENSP00000514751.1:n.1387_1389dup | |
| ENST00000700004.1:c.2705_2707dup (MSH6) | ENSP00000514752.1:p.Glu902_Val903insGlu | |
| ENST00000700005.1:n.2783_2785dup (MSH6) | ||
| ENST00000700006.1:n.5090_5092dup (MSH6) | ||
| ENST00000700007.1:n.2527_2529dup (MSH6) | ||
| ENST00000700008.1:n.2194_2196dup (MSH6) | ||
| ENST00000700009.1:n.2596_2598dup (MSH6) | ||
| ENST00000700010.1:n.1341_1343dup (MSH6) | ||
| ENST00000700011.1:n.3226_3228dup (MSH6) | ||
| ENST00000682451.1:n.4165_4167dup (FBXO11) | ||
| ENST00000684712.1:n.4427_4429dup (FBXO11) | ||
| ENST00000234420.11:c.3932_3934dup (MSH6) MANE Select | ENSP00000234420.5:p.Glu1311_Val1312insGlu | |
| ENST00000540021.6:c.3542_3544dup (MSH6) | ENSP00000446475.1:p.Glu1181_Val1182insGlu | |
| ENST00000652107.1:c.3635_3637dup (MSH6) | ENSP00000498629.1:p.Glu1212_Val1213insGlu | |
| ENST00000673637.1:c.3635_3637dup (MSH6) | ENSP00000501310.1:p.Glu1212_Val1213insGlu | |
| ENST00000234420.9:c.3932_3934dup (MSH6) | ENSP00000234420.4:p.Glu1311_Val1312insGlu | |
| ENST00000405808.5:c.169+1612_169+1614dup (FBXO11) | ENSP00000385127.1:n.169+1612_169+1614dup | |
| ENST00000434234.5:c.*124+1411_*124+1413dup (FBXO11) | ENSP00000402692.1:n.*124+1411_*124+1413dup | |
| ENST00000445503.5:c.*3279_*3281dup (MSH6) | ENSP00000405294.1:n.*3279_*3281dup | |
| ENST00000538136.1:c.3026_3028dup (MSH6) | ENSP00000438580.1:p.Glu1009_Val1010insGlu | |
| ENST00000540021.5:c.3542_3544dup (MSH6) | ENSP00000446475.1:p.Glu1181_Val1182insGlu | |
| ENST00000614496.4:c.3026_3028dup (MSH6) | ENSP00000477844.1:p.Glu1009_Val1010insGlu | |
| ENST00000622629.4:c.833_835dup (MSH6) | ENSP00000482078.1:p.Glu278_Val279insGlu | |
| NM_000179.2:c.3932_3934dup , LRG_219t1:c.3932_3934dup (MSH6) | NP_000170.1:p.Glu1311_Val1312insGlu | |
| NM_001281492.1:c.3542_3544dup (MSH6) | NP_001268421.1:p.Glu1181_Val1182insGlu | |
| NM_001281493.1:c.3026_3028dup (MSH6) | NP_001268422.1:p.Glu1009_Val1010insGlu | |
| NM_001281494.1:c.3026_3028dup (MSH6) | NP_001268423.1:p.Glu1009_Val1010insGlu | |
| XM_005264271.1:c.3635_3637dup (MSH6) | XP_005264328.1:p.Glu1212_Val1213insGlu | |
| XM_011532798.1:c.3749_3751dup (MSH6) | XP_011531100.1:p.Glu1250_Val1251insGlu | |
| XM_011532799.1:c.3635_3637dup (MSH6) | XP_011531101.1:p.Glu1212_Val1213insGlu | |
| XM_011532800.1:c.3635_3637dup (MSH6) | XP_011531102.1:p.Glu1212_Val1213insGlu | |
| XM_024452819.1:c.4025_4027dup (MSH6) | XP_024308587.1:p.Glu1342_Val1343insGlu | |
| XM_024452820.1:c.3842_3844dup (MSH6) | XP_024308588.1:p.Glu1281_Val1282insGlu | |
| XM_024452821.1:c.3728_3730dup (MSH6) | XP_024308589.1:p.Glu1243_Val1244insGlu | |
| XM_024452822.1:c.3119_3121dup (MSH6) | XP_024308590.1:p.Glu1040_Val1041insGlu | |
| NM_000179.3:c.3932_3934dup (MSH6) MANE Select | NP_000170.1:p.Glu1311_Val1312insGlu | |
| NM_001281492.2:c.3542_3544dup (MSH6) | NP_001268421.1:p.Glu1181_Val1182insGlu | |
| NM_001281493.2:c.3026_3028dup (MSH6) | NP_001268422.1:p.Glu1009_Val1010insGlu | |
| NM_001281494.2:c.3026_3028dup (MSH6) | NP_001268423.1:p.Glu1009_Val1010insGlu |