Linked Data
ClinVar Variation Id:
89488
ClinVar RCV Id:
RCV000074956
RCV000215904
RCV000411917
RCV000485556
RCV000524198
RCV001354030
RCV001804808
dbSNP Id:
rs267608120
ExAC:
2:48033744 AAAGC / A
gnomAD v2:
2-48033744-AAAGC-A
gnomAD v4:
2-47806605-AAAGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806609_47806612del , CM000664.2:g.47806609_47806612del | GRCh38 |
| NC_000002.11:g.48033748_48033751del , CM000664.1:g.48033748_48033751del | GRCh37 |
| NC_000002.10:g.47887252_47887255del | NCBI36 |
| NG_007111.1:g.28463_28466del , LRG_219:g.28463_28466del | |
| NG_008397.1:g.104067_104070del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3662_3665del (MSH6) | ENSP00000406248.2:p.Ala1221GlufsTer6 | |
| ENST00000420813.6:c.3662_3665del (MSH6) | ENSP00000390382.2:p.Ala1221GlufsTer6 | |
| ENST00000455383.6:c.3662_3665del (MSH6) | ENSP00000397484.2:p.Ala1221GlufsTer6 | |
| ENST00000700004.2:c.3575_3578del (MSH6) | ENSP00000514752.2:p.Ala1192GlufsTer6 | |
| ENST00000699999.1:n.4633_4636del (MSH6) | ||
| ENST00000700000.1:c.2393_2396del (MSH6) | ENSP00000514749.1:p.Ala798GlufsTer6 | |
| ENST00000700002.1:c.3965_3968del (MSH6) | ENSP00000514750.1:p.Ala1322GlufsTer6 | |
| ENST00000700003.1:c.1414_1417del (MSH6) | ENSP00000514751.1:n.1414_1417del | |
| ENST00000700004.1:c.2732_2735del (MSH6) | ENSP00000514752.1:p.Ala911GlufsTer6 | |
| ENST00000700005.1:n.2810_2813del (MSH6) | ||
| ENST00000700006.1:n.5117_5120del (MSH6) | ||
| ENST00000700007.1:n.2554_2557del (MSH6) | ||
| ENST00000700008.1:n.2221_2224del (MSH6) | ||
| ENST00000700009.1:n.2623_2626del (MSH6) | ||
| ENST00000700010.1:n.1368_1371del (MSH6) | ||
| ENST00000700011.1:n.3253_3256del (MSH6) | ||
| ENST00000682451.1:n.4139_4142del (FBXO11) | ||
| ENST00000684712.1:n.4401_4404del (FBXO11) | ||
| ENST00000234420.11:c.3959_3962del (MSH6) MANE Select | ENSP00000234420.5:p.Ala1320GlufsTer6 | |
| ENST00000540021.6:c.3569_3572del (MSH6) | ENSP00000446475.1:p.Ala1190GlufsTer6 | |
| ENST00000652107.1:c.3662_3665del (MSH6) | ENSP00000498629.1:p.Ala1221GlufsTer6 | |
| ENST00000673637.1:c.3662_3665del (MSH6) | ENSP00000501310.1:p.Ala1221GlufsTer6 | |
| ENST00000234420.9:c.3959_3962del (MSH6) | ENSP00000234420.4:p.Ala1320GlufsTer6 | |
| ENST00000405808.5:c.169+1586_169+1589del (FBXO11) | ENSP00000385127.1:n.169+1586_169+1589del | |
| ENST00000434234.5:c.*124+1385_*124+1388del (FBXO11) | ENSP00000402692.1:n.*124+1385_*124+1388de... | |
| ENST00000445503.5:c.*3306_*3309del (MSH6) | ENSP00000405294.1:n.*3306_*3309del | |
| ENST00000538136.1:c.3053_3056del (MSH6) | ENSP00000438580.1:p.Ala1018GlufsTer6 | |
| ENST00000540021.5:c.3569_3572del (MSH6) | ENSP00000446475.1:p.Ala1190GlufsTer6 | |
| ENST00000614496.4:c.3053_3056del (MSH6) | ENSP00000477844.1:p.Ala1018GlufsTer6 | |
| ENST00000622629.4:c.860_863del (MSH6) | ENSP00000482078.1:p.Ala287GlufsTer6 | |
| NM_000179.2:c.3959_3962del , LRG_219t1:c.3959_3962del (MSH6) | NP_000170.1:p.Ala1320GlufsTer6 | |
| NM_001281492.1:c.3569_3572del (MSH6) | NP_001268421.1:p.Ala1190GlufsTer6 | |
| NM_001281493.1:c.3053_3056del (MSH6) | NP_001268422.1:p.Ala1018GlufsTer6 | |
| NM_001281494.1:c.3053_3056del (MSH6) | NP_001268423.1:p.Ala1018GlufsTer6 | |
| XM_005264271.1:c.3662_3665del (MSH6) | XP_005264328.1:p.Ala1221GlufsTer6 | |
| XM_011532798.1:c.3776_3779del (MSH6) | XP_011531100.1:p.Ala1259GlufsTer6 | |
| XM_011532799.1:c.3662_3665del (MSH6) | XP_011531101.1:p.Ala1221GlufsTer6 | |
| XM_011532800.1:c.3662_3665del (MSH6) | XP_011531102.1:p.Ala1221GlufsTer6 | |
| XM_024452819.1:c.4052_4055del (MSH6) | XP_024308587.1:p.Ala1351GlufsTer6 | |
| XM_024452820.1:c.3869_3872del (MSH6) | XP_024308588.1:p.Ala1290GlufsTer6 | |
| XM_024452821.1:c.3755_3758del (MSH6) | XP_024308589.1:p.Ala1252GlufsTer6 | |
| XM_024452822.1:c.3146_3149del (MSH6) | XP_024308590.1:p.Ala1049GlufsTer6 | |
| NM_000179.3:c.3959_3962del (MSH6) MANE Select | NP_000170.1:p.Ala1320GlufsTer6 | |
| NM_001281492.2:c.3569_3572del (MSH6) | NP_001268421.1:p.Ala1190GlufsTer6 | |
| NM_001281493.2:c.3053_3056del (MSH6) | NP_001268422.1:p.Ala1018GlufsTer6 | |
| NM_001281494.2:c.3053_3056del (MSH6) | NP_001268423.1:p.Ala1018GlufsTer6 |