Canonical Allele Identifier: CA891843280

Linked Data

ClinVar Variation Id: 567592
ClinVar RCV Id: RCV000687726
dbSNP Id: rs1558393006

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806461_47806474del , CM000664.2:g.47806461_47806474del GRCh38
NC_000002.11:g.48033600_48033613del , CM000664.1:g.48033600_48033613del GRCh37
NC_000002.10:g.47887104_47887117del NCBI36
NG_007111.1:g.28315_28328del , LRG_219:g.28315_28328del
NG_008397.1:g.104205_104218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3514_3527del (MSH6) ENSP00000406248.2:p.Val1172Ter
ENST00000420813.6:c.3514_3527del (MSH6) ENSP00000390382.2:p.Val1172Ter
ENST00000455383.6:c.3514_3527del (MSH6) ENSP00000397484.2:p.Val1172Ter
ENST00000700004.2:c.3427_3440del (MSH6) ENSP00000514752.2:p.Val1143Ter
ENST00000699999.1:n.4485_4498del (MSH6)
ENST00000700000.1:c.2245_2258del (MSH6) ENSP00000514749.1:p.Val749Ter
ENST00000700002.1:c.3817_3830del (MSH6) ENSP00000514750.1:p.Val1273Ter
ENST00000700003.1:c.1266_1279del (MSH6) ENSP00000514751.1:n.1266_1279del
ENST00000700004.1:c.2584_2597del (MSH6) ENSP00000514752.1:p.Val862Ter
ENST00000700005.1:n.2662_2675del (MSH6)
ENST00000700006.1:n.4969_4982del (MSH6)
ENST00000700007.1:n.2406_2419del (MSH6)
ENST00000700008.1:n.2073_2086del (MSH6)
ENST00000700009.1:n.2475_2488del (MSH6)
ENST00000700010.1:n.1220_1233del (MSH6)
ENST00000700011.1:n.3105_3118del (MSH6)
ENST00000682451.1:n.4277_4290del (FBXO11)
ENST00000684712.1:n.4539_4552del (FBXO11)
ENST00000234420.11:c.3811_3824del (MSH6) MANE Select ENSP00000234420.5:p.Val1271Ter
ENST00000540021.6:c.3421_3434del (MSH6) ENSP00000446475.1:p.Val1141Ter
ENST00000652107.1:c.3514_3527del (MSH6) ENSP00000498629.1:p.Val1172Ter
ENST00000673637.1:c.3514_3527del (MSH6) ENSP00000501310.1:p.Val1172Ter
ENST00000234420.9:c.3811_3824del (MSH6) ENSP00000234420.4:p.Val1271Ter
ENST00000405808.5:c.169+1724_169+1737del (FBXO11) ENSP00000385127.1:n.169+1724_169+1737del
ENST00000434234.5:c.*124+1523_*124+1536del (FBXO11) ENSP00000402692.1:n.*124+1523_*124+1536del
ENST00000445503.5:c.*3158_*3171del (MSH6) ENSP00000405294.1:n.*3158_*3171del
ENST00000538136.1:c.2905_2918del (MSH6) ENSP00000438580.1:p.Val969Ter
ENST00000540021.5:c.3421_3434del (MSH6) ENSP00000446475.1:p.Val1141Ter
ENST00000614496.4:c.2905_2918del (MSH6) ENSP00000477844.1:p.Val969Ter
ENST00000622629.4:c.712_725del (MSH6) ENSP00000482078.1:p.Val238Ter
NM_000179.2:c.3811_3824del , LRG_219t1:c.3811_3824del (MSH6) NP_000170.1:p.Val1271Ter
NM_001281492.1:c.3421_3434del (MSH6) NP_001268421.1:p.Val1141Ter
NM_001281493.1:c.2905_2918del (MSH6) NP_001268422.1:p.Val969Ter
NM_001281494.1:c.2905_2918del (MSH6) NP_001268423.1:p.Val969Ter
XM_005264271.1:c.3514_3527del (MSH6) XP_005264328.1:p.Val1172Ter
XM_011532798.1:c.3628_3641del (MSH6) XP_011531100.1:p.Val1210Ter
XM_011532799.1:c.3514_3527del (MSH6) XP_011531101.1:p.Val1172Ter
XM_011532800.1:c.3514_3527del (MSH6) XP_011531102.1:p.Val1172Ter
XM_024452819.1:c.3904_3917del (MSH6) XP_024308587.1:p.Val1302Ter
XM_024452820.1:c.3721_3734del (MSH6) XP_024308588.1:p.Val1241Ter
XM_024452821.1:c.3607_3620del (MSH6) XP_024308589.1:p.Val1203Ter
XM_024452822.1:c.2998_3011del (MSH6) XP_024308590.1:p.Val1000Ter
NM_000179.3:c.3811_3824del (MSH6) MANE Select NP_000170.1:p.Val1271Ter
NM_001281492.2:c.3421_3434del (MSH6) NP_001268421.1:p.Val1141Ter
NM_001281493.2:c.2905_2918del (MSH6) NP_001268422.1:p.Val969Ter
NM_001281494.2:c.2905_2918del (MSH6) NP_001268423.1:p.Val969Ter