Canonical Allele Identifier: CA2580067255

Linked Data

ClinVar Variation Id: 1733373
ClinVar RCV Id: RCV002452336

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805689_47805690delinsTA , CM000664.2:g.47805689_47805690delinsTA GRCh38
NC_000002.11:g.48032828_48032829delinsTA , CM000664.1:g.48032828_48032829delinsTA GRCh37
NC_000002.10:g.47886332_47886333delinsTA NCBI36
NG_007111.1:g.27543_27544delinsTA , LRG_219:g.27543_27544delinsTA
NG_008397.1:g.104986_104987delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3331_3332delinsTA (MSH6) ENSP00000406248.2:p.Val1111Ter
ENST00000420813.6:c.3331_3332delinsTA (MSH6) ENSP00000390382.2:p.Val1111Ter
ENST00000455383.6:c.3331_3332delinsTA (MSH6) ENSP00000397484.2:p.Val1111Ter
ENST00000700004.2:c.3244_3245delinsTA (MSH6) ENSP00000514752.2:p.Val1082Ter
ENST00000699999.1:n.4302_4303delinsTA (MSH6)
ENST00000700000.1:c.2062_2063delinsTA (MSH6) ENSP00000514749.1:p.Val688Ter
ENST00000700002.1:c.3634_3635delinsTA (MSH6) ENSP00000514750.1:p.Val1212Ter
ENST00000700003.1:c.1083_1084delinsTA (MSH6) ENSP00000514751.1:n.1083_1084delinsTA
ENST00000700004.1:c.2401_2402delinsTA (MSH6) ENSP00000514752.1:p.Val801Ter
ENST00000700005.1:n.2479_2480delinsTA (MSH6)
ENST00000700006.1:n.4290_4291delinsTA (MSH6)
ENST00000700007.1:n.2223_2224delinsTA (MSH6)
ENST00000700008.1:n.1797_1798delinsTA (MSH6)
ENST00000700009.1:n.1796_1797delinsTA (MSH6)
ENST00000700010.1:n.1037_1038delinsTA (MSH6)
ENST00000700011.1:n.2922_2923delinsTA (MSH6)
ENST00000234420.11:c.3628_3629delinsTA (MSH6) MANE Select ENSP00000234420.5:p.Val1210Ter
ENST00000540021.6:c.3238_3239delinsTA (MSH6) ENSP00000446475.1:p.Val1080Ter
ENST00000652107.1:c.3331_3332delinsTA (MSH6) ENSP00000498629.1:p.Val1111Ter
ENST00000673637.1:c.3331_3332delinsTA (MSH6) ENSP00000501310.1:p.Val1111Ter
ENST00000234420.9:c.3628_3629delinsTA (MSH6) ENSP00000234420.4:p.Val1210Ter
ENST00000405808.5:c.169+2505_169+2506delinsTA (FBXO11) ENSP00000385127.1:n.169+2505_169+2506delinsTA
ENST00000434234.5:c.*124+2304_*124+2305delinsTA (FBXO11) ENSP00000402692.1:n.*124+2304_*124+2305delinsTA
ENST00000445503.5:c.*2975_*2976delinsTA (MSH6) ENSP00000405294.1:n.*2975_*2976delinsTA
ENST00000538136.1:c.2722_2723delinsTA (MSH6) ENSP00000438580.1:p.Val908Ter
ENST00000540021.5:c.3238_3239delinsTA (MSH6) ENSP00000446475.1:p.Val1080Ter
ENST00000614496.4:c.2722_2723delinsTA (MSH6) ENSP00000477844.1:p.Val908Ter
ENST00000622629.4:c.532_533delinsTA (MSH6) ENSP00000482078.1:p.Val178Ter
NM_000179.2:c.3628_3629delinsTA , LRG_219t1:c.3628_3629delinsTA (MSH6) NP_000170.1:p.Val1210Ter
NM_001281492.1:c.3238_3239delinsTA (MSH6) NP_001268421.1:p.Val1080Ter
NM_001281493.1:c.2722_2723delinsTA (MSH6) NP_001268422.1:p.Val908Ter
NM_001281494.1:c.2722_2723delinsTA (MSH6) NP_001268423.1:p.Val908Ter
XM_005264271.1:c.3331_3332delinsTA (MSH6) XP_005264328.1:p.Val1111Ter
XM_011532798.1:c.3445_3446delinsTA (MSH6) XP_011531100.1:p.Val1149Ter
XM_011532799.1:c.3331_3332delinsTA (MSH6) XP_011531101.1:p.Val1111Ter
XM_011532800.1:c.3331_3332delinsTA (MSH6) XP_011531102.1:p.Val1111Ter
XM_024452819.1:c.3628_3629delinsTA (MSH6) XP_024308587.1:p.Val1210Ter
XM_024452820.1:c.3445_3446delinsTA (MSH6) XP_024308588.1:p.Val1149Ter
XM_024452821.1:c.3331_3332delinsTA (MSH6) XP_024308589.1:p.Val1111Ter
XM_024452822.1:c.2722_2723delinsTA (MSH6) XP_024308590.1:p.Val908Ter
NM_000179.3:c.3628_3629delinsTA (MSH6) MANE Select NP_000170.1:p.Val1210Ter
NM_001281492.2:c.3238_3239delinsTA (MSH6) NP_001268421.1:p.Val1080Ter
NM_001281493.2:c.2722_2723delinsTA (MSH6) NP_001268422.1:p.Val908Ter
NM_001281494.2:c.2722_2723delinsTA (MSH6) NP_001268423.1:p.Val908Ter