Linked Data
ClinVar Variation Id:
89474
ClinVar RCV Id:
RCV003460693
dbSNP Id:
rs63751319
gnomAD v4:
2-47806489-AGGAGACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806490_47806496del , CM000664.2:g.47806490_47806496del | GRCh38 |
| NC_000002.11:g.48033629_48033635del , CM000664.1:g.48033629_48033635del | GRCh37 |
| NC_000002.10:g.47887133_47887139del | NCBI36 |
| NG_007111.1:g.28344_28350del , LRG_219:g.28344_28350del | |
| NG_008397.1:g.104180_104186del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3543_3549del (MSH6) | ENSP00000406248.2:p.Glu1182LeufsTer? | |
| ENST00000420813.6:c.3543_3549del (MSH6) | ENSP00000390382.2:p.Glu1182LeufsTer? | |
| ENST00000455383.6:c.3543_3549del (MSH6) | ENSP00000397484.2:p.Glu1182LeufsTer? | |
| ENST00000700004.2:c.3456_3462del (MSH6) | ENSP00000514752.2:p.Glu1153LeufsTer? | |
| ENST00000699999.1:n.4514_4520del (MSH6) | ||
| ENST00000700000.1:c.2274_2280del (MSH6) | ENSP00000514749.1:p.Glu759LeufsTer? | |
| ENST00000700002.1:c.3846_3852del (MSH6) | ENSP00000514750.1:p.Glu1283LeufsTer? | |
| ENST00000700003.1:c.1295_1301del (MSH6) | ENSP00000514751.1:n.1295_1301del | |
| ENST00000700004.1:c.2613_2619del (MSH6) | ENSP00000514752.1:p.Glu872LeufsTer? | |
| ENST00000700005.1:n.2691_2697del (MSH6) | ||
| ENST00000700006.1:n.4998_5004del (MSH6) | ||
| ENST00000700007.1:n.2435_2441del (MSH6) | ||
| ENST00000700008.1:n.2102_2108del (MSH6) | ||
| ENST00000700009.1:n.2504_2510del (MSH6) | ||
| ENST00000700010.1:n.1249_1255del (MSH6) | ||
| ENST00000700011.1:n.3134_3140del (MSH6) | ||
| ENST00000682451.1:n.4252_4258del (FBXO11) | ||
| ENST00000684712.1:n.4514_4520del (FBXO11) | ||
| ENST00000234420.11:c.3840_3846del (MSH6) MANE Select | ENSP00000234420.5:p.Glu1281LeufsTer? | |
| ENST00000540021.6:c.3450_3456del (MSH6) | ENSP00000446475.1:p.Glu1151LeufsTer? | |
| ENST00000652107.1:c.3543_3549del (MSH6) | ENSP00000498629.1:p.Glu1182LeufsTer? | |
| ENST00000673637.1:c.3543_3549del (MSH6) | ENSP00000501310.1:p.Glu1182LeufsTer? | |
| ENST00000234420.9:c.3840_3846del (MSH6) | ENSP00000234420.4:p.Glu1281LeufsTer? | |
| ENST00000405808.5:c.169+1699_169+1705del (FBXO11) | ENSP00000385127.1:n.169+1699_169+1705del | |
| ENST00000434234.5:c.*124+1498_*124+1504del (FBXO11) | ENSP00000402692.1:n.*124+1498_*124+1504de... | |
| ENST00000445503.5:c.*3187_*3193del (MSH6) | ENSP00000405294.1:n.*3187_*3193del | |
| ENST00000538136.1:c.2934_2940del (MSH6) | ENSP00000438580.1:p.Glu979LeufsTer? | |
| ENST00000540021.5:c.3450_3456del (MSH6) | ENSP00000446475.1:p.Glu1151LeufsTer? | |
| ENST00000614496.4:c.2934_2940del (MSH6) | ENSP00000477844.1:p.Glu979LeufsTer? | |
| ENST00000622629.4:c.741_747del (MSH6) | ENSP00000482078.1:p.Glu248LeufsTer? | |
| NM_000179.2:c.3840_3846del , LRG_219t1:c.3840_3846del (MSH6) | NP_000170.1:p.Glu1281LeufsTer? | |
| NM_001281492.1:c.3450_3456del (MSH6) | NP_001268421.1:p.Glu1151LeufsTer? | |
| NM_001281493.1:c.2934_2940del (MSH6) | NP_001268422.1:p.Glu979LeufsTer? | |
| NM_001281494.1:c.2934_2940del (MSH6) | NP_001268423.1:p.Glu979LeufsTer? | |
| XM_005264271.1:c.3543_3549del (MSH6) | XP_005264328.1:p.Glu1182LeufsTer? | |
| XM_011532798.1:c.3657_3663del (MSH6) | XP_011531100.1:p.Glu1220LeufsTer? | |
| XM_011532799.1:c.3543_3549del (MSH6) | XP_011531101.1:p.Glu1182LeufsTer? | |
| XM_011532800.1:c.3543_3549del (MSH6) | XP_011531102.1:p.Glu1182LeufsTer? | |
| XM_024452819.1:c.3933_3939del (MSH6) | XP_024308587.1:p.Glu1312LeufsTer? | |
| XM_024452820.1:c.3750_3756del (MSH6) | XP_024308588.1:p.Glu1251LeufsTer? | |
| XM_024452821.1:c.3636_3642del (MSH6) | XP_024308589.1:p.Glu1213LeufsTer? | |
| XM_024452822.1:c.3027_3033del (MSH6) | XP_024308590.1:p.Glu1010LeufsTer? | |
| NM_000179.3:c.3840_3846del (MSH6) MANE Select | NP_000170.1:p.Glu1281LeufsTer? | |
| NM_001281492.2:c.3450_3456del (MSH6) | NP_001268421.1:p.Glu1151LeufsTer? | |
| NM_001281493.2:c.2934_2940del (MSH6) | NP_001268422.1:p.Glu979LeufsTer? | |
| NM_001281494.2:c.2934_2940del (MSH6) | NP_001268423.1:p.Glu979LeufsTer? |