Canonical Allele Identifier: CA2576961574

Linked Data

ClinVar Variation Id: 1809524
ClinVar RCV Id: RCV002481103

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804984_47804999del , CM000664.2:g.47804984_47804999del GRCh38
NC_000002.11:g.48032123_48032138del , CM000664.1:g.48032123_48032138del GRCh37
NC_000002.10:g.47885627_47885642del NCBI36
NG_007111.1:g.26838_26853del , LRG_219:g.26838_26853del
NG_008397.1:g.105679_105694del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3216_3231del (MSH6) ENSP00000406248.2:p.Arg1073LeufsTer7
ENST00000420813.6:c.3216_3231del (MSH6) ENSP00000390382.2:p.Arg1073LeufsTer7
ENST00000455383.6:c.3216_3231del (MSH6) ENSP00000397484.2:p.Arg1073LeufsTer7
ENST00000700004.2:c.3173-634_3173-619del (MSH6) ENSP00000514752.2:n.3173-634_3173-619del
ENST00000699999.1:n.3597_3612del (MSH6)
ENST00000700000.1:c.1947_1962del (MSH6) ENSP00000514749.1:p.Arg650LeufsTer7
ENST00000700002.1:c.3519_3534del (MSH6) ENSP00000514750.1:p.Arg1174LeufsTer7
ENST00000700003.1:c.968_983del (MSH6) ENSP00000514751.1:n.968_983del
ENST00000700004.1:c.2330-634_2330-619del (MSH6) ENSP00000514752.1:n.2330-634_2330-619del
ENST00000700005.1:n.2364_2379del (MSH6)
ENST00000700006.1:n.3585_3600del (MSH6)
ENST00000700007.1:n.1518_1533del (MSH6)
ENST00000700008.1:n.1092_1107del (MSH6)
ENST00000700009.1:n.1091_1106del (MSH6)
ENST00000700010.1:n.922_937del (MSH6)
ENST00000700011.1:n.2217_2232del (MSH6)
ENST00000234420.11:c.3513_3528del (MSH6) MANE Select ENSP00000234420.5:p.Arg1172LeufsTer7
ENST00000540021.6:c.3123_3138del (MSH6) ENSP00000446475.1:p.Arg1042LeufsTer7
ENST00000652107.1:c.3216_3231del (MSH6) ENSP00000498629.1:p.Arg1073LeufsTer7
ENST00000673637.1:c.3216_3231del (MSH6) ENSP00000501310.1:p.Arg1073LeufsTer7
ENST00000234420.9:c.3513_3528del (MSH6) ENSP00000234420.4:p.Arg1172LeufsTer7
ENST00000405808.5:c.169+3198_169+3213del (FBXO11) ENSP00000385127.1:n.169+3198_169+3213del
ENST00000434234.5:c.*124+2997_*124+3012del (FBXO11) ENSP00000402692.1:n.*124+2997_*124+3012de...
ENST00000445503.5:c.*2860_*2875del (MSH6) ENSP00000405294.1:n.*2860_*2875del
ENST00000538136.1:c.2607_2622del (MSH6) ENSP00000438580.1:p.Arg870LeufsTer7
ENST00000540021.5:c.3123_3138del (MSH6) ENSP00000446475.1:p.Arg1042LeufsTer7
ENST00000614496.4:c.2607_2622del (MSH6) ENSP00000477844.1:p.Arg870LeufsTer7
ENST00000622629.4:c.417_432del (MSH6) ENSP00000482078.1:p.Arg140LeufsTer7
NM_000179.2:c.3513_3528del , LRG_219t1:c.3513_3528del (MSH6) NP_000170.1:p.Arg1172LeufsTer7
NM_001281492.1:c.3123_3138del (MSH6) NP_001268421.1:p.Arg1042LeufsTer7
NM_001281493.1:c.2607_2622del (MSH6) NP_001268422.1:p.Arg870LeufsTer7
NM_001281494.1:c.2607_2622del (MSH6) NP_001268423.1:p.Arg870LeufsTer7
XM_005264271.1:c.3216_3231del (MSH6) XP_005264328.1:p.Arg1073LeufsTer7
XM_011532798.1:c.3330_3345del (MSH6) XP_011531100.1:p.Arg1111LeufsTer7
XM_011532799.1:c.3216_3231del (MSH6) XP_011531101.1:p.Arg1073LeufsTer7
XM_011532800.1:c.3216_3231del (MSH6) XP_011531102.1:p.Arg1073LeufsTer7
XM_024452819.1:c.3513_3528del (MSH6) XP_024308587.1:p.Arg1172LeufsTer7
XM_024452820.1:c.3330_3345del (MSH6) XP_024308588.1:p.Arg1111LeufsTer7
XM_024452821.1:c.3216_3231del (MSH6) XP_024308589.1:p.Arg1073LeufsTer7
XM_024452822.1:c.2607_2622del (MSH6) XP_024308590.1:p.Arg870LeufsTer7
NM_000179.3:c.3513_3528del (MSH6) MANE Select NP_000170.1:p.Arg1172LeufsTer7
NM_001281492.2:c.3123_3138del (MSH6) NP_001268421.1:p.Arg1042LeufsTer7
NM_001281493.2:c.2607_2622del (MSH6) NP_001268422.1:p.Arg870LeufsTer7
NM_001281494.2:c.2607_2622del (MSH6) NP_001268423.1:p.Arg870LeufsTer7