Linked Data
ClinVar Variation Id:
548775
ClinVar RCV Id:
RCV000662714
dbSNP Id:
rs780754745
ExAC:
2:48032194 CTCAT / C
gnomAD v2:
2-48032194-CTCAT-C
gnomAD v3:
2-47805055-CTCAT-C
gnomAD v4:
2-47805055-CTCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805059_47805062del , CM000664.2:g.47805059_47805062del | GRCh38 |
| NC_000002.11:g.48032198_48032201del , CM000664.1:g.48032198_48032201del | GRCh37 |
| NC_000002.10:g.47885702_47885705del | NCBI36 |
| NG_007111.1:g.26913_26916del , LRG_219:g.26913_26916del | |
| NG_008397.1:g.105617_105620del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3259+32_3259+35del (MSH6) | ENSP00000406248.2:n.3259+32_3259+35del | |
| ENST00000420813.6:c.3259+32_3259+35del (MSH6) | ENSP00000390382.2:n.3259+32_3259+35del | |
| ENST00000455383.6:c.3259+32_3259+35del (MSH6) | ENSP00000397484.2:n.3259+32_3259+35del | |
| ENST00000700004.2:c.3173-559_3173-556del (MSH6) | ENSP00000514752.2:n.3173-559_3173-556del | |
| ENST00000699999.1:n.3672_3675del (MSH6) | ||
| ENST00000700000.1:c.1990+32_1990+35del (MSH6) | ENSP00000514749.1:n.1990+32_1990+35del | |
| ENST00000700002.1:c.3562+32_3562+35del (MSH6) | ENSP00000514750.1:n.3562+32_3562+35del | |
| ENST00000700003.1:c.1011+32_1011+35del (MSH6) | ENSP00000514751.1:n.1011+32_1011+35del | |
| ENST00000700004.1:c.2330-559_2330-556del (MSH6) | ENSP00000514752.1:n.2330-559_2330-556del | |
| ENST00000700005.1:n.2407+32_2407+35del (MSH6) | ||
| ENST00000700006.1:n.3660_3663del (MSH6) | ||
| ENST00000700007.1:n.1593_1596del (MSH6) | ||
| ENST00000700008.1:n.1167_1170del (MSH6) | ||
| ENST00000700009.1:n.1166_1169del (MSH6) | ||
| ENST00000700010.1:n.965+32_965+35del (MSH6) | ||
| ENST00000700011.1:n.2292_2295del (MSH6) | ||
| ENST00000234420.11:c.3556+32_3556+35del (MSH6) MANE Select | ENSP00000234420.5:n.3556+32_3556+35del | |
| ENST00000540021.6:c.3166+32_3166+35del (MSH6) | ENSP00000446475.1:n.3166+32_3166+35del | |
| ENST00000652107.1:c.3259+32_3259+35del (MSH6) | ENSP00000498629.1:n.3259+32_3259+35del | |
| ENST00000673637.1:c.3259+32_3259+35del (MSH6) | ENSP00000501310.1:n.3259+32_3259+35del | |
| ENST00000234420.9:c.3556+32_3556+35del (MSH6) | ENSP00000234420.4:n.3556+32_3556+35del | |
| ENST00000405808.5:c.169+3136_169+3139del (FBXO11) | ENSP00000385127.1:n.169+3136_169+3139del | |
| ENST00000434234.5:c.*124+2935_*124+2938del (FBXO11) | ENSP00000402692.1:n.*124+2935_*124+2938del | |
| ENST00000445503.5:c.*2903+32_*2903+35del (MSH6) | ENSP00000405294.1:n.*2903+32_*2903+35del | |
| ENST00000538136.1:c.2650+32_2650+35del (MSH6) | ENSP00000438580.1:n.2650+32_2650+35del | |
| ENST00000540021.5:c.3166+32_3166+35del (MSH6) | ENSP00000446475.1:n.3166+32_3166+35del | |
| ENST00000614496.4:c.2650+32_2650+35del (MSH6) | ENSP00000477844.1:n.2650+32_2650+35del | |
| ENST00000622629.4:c.460+32_460+35del (MSH6) | ENSP00000482078.1:n.460+32_460+35del | |
| NM_000179.2:c.3556+32_3556+35del , LRG_219t1:c.3556+32_3556+35del (MSH6) | NP_000170.1:n.3556+32_3556+35del | |
| NM_001281492.1:c.3166+32_3166+35del (MSH6) | NP_001268421.1:n.3166+32_3166+35del | |
| NM_001281493.1:c.2650+32_2650+35del (MSH6) | NP_001268422.1:n.2650+32_2650+35del | |
| NM_001281494.1:c.2650+32_2650+35del (MSH6) | NP_001268423.1:n.2650+32_2650+35del | |
| XM_005264271.1:c.3259+32_3259+35del (MSH6) | XP_005264328.1:n.3259+32_3259+35del | |
| XM_011532798.1:c.3373+32_3373+35del (MSH6) | XP_011531100.1:n.3373+32_3373+35del | |
| XM_011532799.1:c.3259+32_3259+35del (MSH6) | XP_011531101.1:n.3259+32_3259+35del | |
| XM_011532800.1:c.3259+32_3259+35del (MSH6) | XP_011531102.1:n.3259+32_3259+35del | |
| XM_024452819.1:c.3556+32_3556+35del (MSH6) | XP_024308587.1:n.3556+32_3556+35del | |
| XM_024452820.1:c.3373+32_3373+35del (MSH6) | XP_024308588.1:n.3373+32_3373+35del | |
| XM_024452821.1:c.3259+32_3259+35del (MSH6) | XP_024308589.1:n.3259+32_3259+35del | |
| XM_024452822.1:c.2650+32_2650+35del (MSH6) | XP_024308590.1:n.2650+32_2650+35del | |
| NM_000179.3:c.3556+32_3556+35del (MSH6) MANE Select | NP_000170.1:n.3556+32_3556+35del | |
| NM_001281492.2:c.3166+32_3166+35del (MSH6) | NP_001268421.1:n.3166+32_3166+35del | |
| NM_001281493.2:c.2650+32_2650+35del (MSH6) | NP_001268422.1:n.2650+32_2650+35del | |
| NM_001281494.2:c.2650+32_2650+35del (MSH6) | NP_001268423.1:n.2650+32_2650+35del |