Canonical Allele Identifier: CA913188078

Linked Data

ClinVar Variation Id: 925341
ClinVar RCV Id: RCV001187217
dbSNP Id: rs1670212485

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806799_47806816del , CM000664.2:g.47806799_47806816del GRCh38
NC_000002.11:g.48033938_48033955del , CM000664.1:g.48033938_48033955del GRCh37
NC_000002.10:g.47887442_47887459del NCBI36
NG_007111.1:g.28653_28670del , LRG_219:g.28653_28670del
NG_008397.1:g.103862_103879del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3725_3742del (MSH6) ENSP00000406248.2:p.Glu1242_Asp1247del
ENST00000420813.6:c.3725_3742del (MSH6) ENSP00000390382.2:p.Glu1242_Asp1247del
ENST00000455383.6:c.3725_3742del (MSH6) ENSP00000397484.2:p.Glu1242_Asp1247del
ENST00000700004.2:c.3638_3655del (MSH6) ENSP00000514752.2:p.Glu1213_Asp1218del
ENST00000699999.1:n.4696_4713del (MSH6)
ENST00000700000.1:c.2456_2473del (MSH6) ENSP00000514749.1:p.Glu819_Asp824del
ENST00000700002.1:c.4028_4045del (MSH6) ENSP00000514750.1:p.Glu1343_Asp1348del
ENST00000700003.1:c.1477_1494del (MSH6) ENSP00000514751.1:n.1477_1494del
ENST00000700004.1:c.2795_2812del (MSH6) ENSP00000514752.1:p.Glu932_Asp937del
ENST00000700005.1:n.3000_3017del (MSH6)
ENST00000700007.1:n.2617_2634del (MSH6)
ENST00000700008.1:n.2284_2301del (MSH6)
ENST00000700009.1:n.2686_2703del (MSH6)
ENST00000700010.1:n.1431_1448del (MSH6)
ENST00000700011.1:n.3316_3333del (MSH6)
ENST00000682451.1:n.3934_3951del (FBXO11)
ENST00000684712.1:n.4196_4213del (FBXO11)
ENST00000234420.11:c.4022_4039del (MSH6) MANE Select ENSP00000234420.5:p.Glu1341_Asp1346del
ENST00000540021.6:c.3632_3649del (MSH6) ENSP00000446475.1:p.Glu1211_Asp1216del
ENST00000652107.1:c.3725_3742del (MSH6) ENSP00000498629.1:p.Glu1242_Asp1247del
ENST00000673637.1:c.3725_3742del (MSH6) ENSP00000501310.1:p.Glu1242_Asp1247del
ENST00000234420.9:c.4022_4039del (MSH6) ENSP00000234420.4:p.Glu1341_Asp1346del
ENST00000405808.5:c.169+1381_169+1398del (FBXO11) ENSP00000385127.1:n.169+1381_169+1398del
ENST00000434234.5:c.*124+1180_*124+1197del (FBXO11) ENSP00000402692.1:n.*124+1180_*124+1197del
ENST00000445503.5:c.*3369_*3386del (MSH6) ENSP00000405294.1:n.*3369_*3386del
ENST00000465204.5:n.3096_3113del (FBXO11)
ENST00000538136.1:c.3116_3133del (MSH6) ENSP00000438580.1:p.Glu1039_Asp1044del
ENST00000540021.5:c.3632_3649del (MSH6) ENSP00000446475.1:p.Glu1211_Asp1216del
ENST00000614496.4:c.3116_3133del (MSH6) ENSP00000477844.1:p.Glu1039_Asp1044del
ENST00000622629.4:c.923_940del (MSH6) ENSP00000482078.1:p.Glu308_Asp313del
NM_000179.2:c.4022_4039del , LRG_219t1:c.4022_4039del (MSH6) NP_000170.1:p.Glu1341_Asp1346del
NM_001281492.1:c.3632_3649del (MSH6) NP_001268421.1:p.Glu1211_Asp1216del
NM_001281493.1:c.3116_3133del (MSH6) NP_001268422.1:p.Glu1039_Asp1044del
NM_001281494.1:c.3116_3133del (MSH6) NP_001268423.1:p.Glu1039_Asp1044del
XM_005264271.1:c.3725_3742del (MSH6) XP_005264328.1:p.Glu1242_Asp1247del
XM_011532798.1:c.3839_3856del (MSH6) XP_011531100.1:p.Glu1280_Asp1285del
XM_011532799.1:c.3725_3742del (MSH6) XP_011531101.1:p.Glu1242_Asp1247del
XM_011532800.1:c.3725_3742del (MSH6) XP_011531102.1:p.Glu1242_Asp1247del
XM_024452819.1:c.4115_4132del (MSH6) XP_024308587.1:p.Glu1372_Asp1377del
XM_024452820.1:c.3932_3949del (MSH6) XP_024308588.1:p.Glu1311_Asp1316del
XM_024452821.1:c.3818_3835del (MSH6) XP_024308589.1:p.Glu1273_Asp1278del
XM_024452822.1:c.3209_3226del (MSH6) XP_024308590.1:p.Glu1070_Asp1075del
NM_000179.3:c.4022_4039del (MSH6) MANE Select NP_000170.1:p.Glu1341_Asp1346del
NM_001281492.2:c.3632_3649del (MSH6) NP_001268421.1:p.Glu1211_Asp1216del
NM_001281493.2:c.3116_3133del (MSH6) NP_001268422.1:p.Glu1039_Asp1044del
NM_001281494.2:c.3116_3133del (MSH6) NP_001268423.1:p.Glu1039_Asp1044del