Canonical Allele Identifier: CA2580067191

Linked Data

ClinVar Variation Id: 1732316
ClinVar RCV Id: RCV002459369

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804999_47805006del , CM000664.2:g.47804999_47805006del GRCh38
NC_000002.11:g.48032138_48032145del , CM000664.1:g.48032138_48032145del GRCh37
NC_000002.10:g.47885642_47885649del NCBI36
NG_007111.1:g.26853_26860del , LRG_219:g.26853_26860del
NG_008397.1:g.105671_105678del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3231_3238del (MSH6) ENSP00000406248.2:p.Arg1077SerfsTer9
ENST00000420813.6:c.3231_3238del (MSH6) ENSP00000390382.2:p.Arg1077SerfsTer9
ENST00000455383.6:c.3231_3238del (MSH6) ENSP00000397484.2:p.Arg1077SerfsTer9
ENST00000700004.2:c.3173-619_3173-612del (MSH6) ENSP00000514752.2:n.3173-619_3173-612del
ENST00000699999.1:n.3612_3619del (MSH6)
ENST00000700000.1:c.1962_1969del (MSH6) ENSP00000514749.1:p.Arg654SerfsTer9
ENST00000700002.1:c.3534_3541del (MSH6) ENSP00000514750.1:p.Arg1178SerfsTer9
ENST00000700003.1:c.983_990del (MSH6) ENSP00000514751.1:n.983_990del
ENST00000700004.1:c.2330-619_2330-612del (MSH6) ENSP00000514752.1:n.2330-619_2330-612del
ENST00000700005.1:n.2379_2386del (MSH6)
ENST00000700006.1:n.3600_3607del (MSH6)
ENST00000700007.1:n.1533_1540del (MSH6)
ENST00000700008.1:n.1107_1114del (MSH6)
ENST00000700009.1:n.1106_1113del (MSH6)
ENST00000700010.1:n.937_944del (MSH6)
ENST00000700011.1:n.2232_2239del (MSH6)
ENST00000234420.11:c.3528_3535del (MSH6) MANE Select ENSP00000234420.5:p.Arg1176SerfsTer9
ENST00000540021.6:c.3138_3145del (MSH6) ENSP00000446475.1:p.Arg1046SerfsTer9
ENST00000652107.1:c.3231_3238del (MSH6) ENSP00000498629.1:p.Arg1077SerfsTer9
ENST00000673637.1:c.3231_3238del (MSH6) ENSP00000501310.1:p.Arg1077SerfsTer9
ENST00000234420.9:c.3528_3535del (MSH6) ENSP00000234420.4:p.Arg1176SerfsTer9
ENST00000405808.5:c.169+3190_169+3197del (FBXO11) ENSP00000385127.1:n.169+3190_169+3197del
ENST00000434234.5:c.*124+2989_*124+2996del (FBXO11) ENSP00000402692.1:n.*124+2989_*124+2996de...
ENST00000445503.5:c.*2875_*2882del (MSH6) ENSP00000405294.1:n.*2875_*2882del
ENST00000538136.1:c.2622_2629del (MSH6) ENSP00000438580.1:p.Arg874SerfsTer9
ENST00000540021.5:c.3138_3145del (MSH6) ENSP00000446475.1:p.Arg1046SerfsTer9
ENST00000614496.4:c.2622_2629del (MSH6) ENSP00000477844.1:p.Arg874SerfsTer9
ENST00000622629.4:c.432_439del (MSH6) ENSP00000482078.1:p.Arg144SerfsTer9
NM_000179.2:c.3528_3535del , LRG_219t1:c.3528_3535del (MSH6) NP_000170.1:p.Arg1176SerfsTer9
NM_001281492.1:c.3138_3145del (MSH6) NP_001268421.1:p.Arg1046SerfsTer9
NM_001281493.1:c.2622_2629del (MSH6) NP_001268422.1:p.Arg874SerfsTer9
NM_001281494.1:c.2622_2629del (MSH6) NP_001268423.1:p.Arg874SerfsTer9
XM_005264271.1:c.3231_3238del (MSH6) XP_005264328.1:p.Arg1077SerfsTer9
XM_011532798.1:c.3345_3352del (MSH6) XP_011531100.1:p.Arg1115SerfsTer9
XM_011532799.1:c.3231_3238del (MSH6) XP_011531101.1:p.Arg1077SerfsTer9
XM_011532800.1:c.3231_3238del (MSH6) XP_011531102.1:p.Arg1077SerfsTer9
XM_024452819.1:c.3528_3535del (MSH6) XP_024308587.1:p.Arg1176SerfsTer9
XM_024452820.1:c.3345_3352del (MSH6) XP_024308588.1:p.Arg1115SerfsTer9
XM_024452821.1:c.3231_3238del (MSH6) XP_024308589.1:p.Arg1077SerfsTer9
XM_024452822.1:c.2622_2629del (MSH6) XP_024308590.1:p.Arg874SerfsTer9
NM_000179.3:c.3528_3535del (MSH6) MANE Select NP_000170.1:p.Arg1176SerfsTer9
NM_001281492.2:c.3138_3145del (MSH6) NP_001268421.1:p.Arg1046SerfsTer9
NM_001281493.2:c.2622_2629del (MSH6) NP_001268422.1:p.Arg874SerfsTer9
NM_001281494.2:c.2622_2629del (MSH6) NP_001268423.1:p.Arg874SerfsTer9