Canonical Allele Identifier: CA16611128

Linked Data

ClinVar Variation Id: 410532
ClinVar RCV Id: RCV002230422
dbSNP Id: rs1060502946

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799278_47799279insAA , CM000664.2:g.47799278_47799279insAA GRCh38
NC_000002.11:g.48026417_48026418insAA , CM000664.1:g.48026417_48026418insAA GRCh37
NC_000002.10:g.47879921_47879922insAA NCBI36
NG_007111.1:g.21132_21133insAA , LRG_219:g.21132_21133insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.998_999insAA (MSH6) ENSP00000406248.2:p.Phe333LeufsTer22
ENST00000420813.6:c.998_999insAA (MSH6) ENSP00000390382.2:p.Phe333LeufsTer22
ENST00000455383.6:c.998_999insAA (MSH6) ENSP00000397484.2:p.Phe333LeufsTer22
ENST00000700004.2:c.1295_1296insAA (MSH6) ENSP00000514752.2:p.Phe432LeufsTer22
ENST00000699999.1:n.1379_1380insAA (MSH6)
ENST00000700000.1:c.1295_1296insAA (MSH6) ENSP00000514749.1:p.Phe432LeufsTer22
ENST00000700002.1:c.1301_1302insAA (MSH6) ENSP00000514750.1:p.Phe434LeufsTer22
ENST00000700003.1:c.627+3215_627+3216insAA (MSH6) ENSP00000514751.1:n.627+3215_627+3216insA...
ENST00000700004.1:c.452_453insAA (MSH6) ENSP00000514752.1:p.Phe151LeufsTer22
ENST00000234420.11:c.1295_1296insAA (MSH6) MANE Select ENSP00000234420.5:p.Phe432LeufsTer22
ENST00000540021.6:c.905_906insAA (MSH6) ENSP00000446475.1:p.Phe302LeufsTer22
ENST00000652107.1:c.998_999insAA (MSH6) ENSP00000498629.1:p.Phe333LeufsTer22
ENST00000673637.1:c.998_999insAA (MSH6) ENSP00000501310.1:p.Phe333LeufsTer22
ENST00000234420.9:c.1295_1296insAA (MSH6) ENSP00000234420.4:p.Phe432LeufsTer22
ENST00000405808.5:c.169+8916_169+8917insTT (FBXO11) ENSP00000385127.1:n.169+8916_169+8917insT...
ENST00000434234.5:c.*124+8715_*124+8716insTT (FBXO11) ENSP00000402692.1:n.*124+8715_*124+8716in...
ENST00000445503.5:c.*642_*643insAA (MSH6) ENSP00000405294.1:n.*642_*643insAA
ENST00000538136.1:c.389_390insAA (MSH6) ENSP00000438580.1:p.Phe130LeufsTer22
ENST00000540021.5:c.905_906insAA (MSH6) ENSP00000446475.1:p.Phe302LeufsTer22
ENST00000614496.4:c.389_390insAA (MSH6) ENSP00000477844.1:p.Phe130LeufsTer22
ENST00000616033.4:c.1292_1293insAA (MSH6) ENSP00000480261.1:p.Phe431LeufsTer22
ENST00000622629.4:c.-1802_-1801insAA (MSH6) ENSP00000482078.1:n.-1802_-1801insAA
NM_000179.2:c.1295_1296insAA , LRG_219t1:c.1295_1296insAA (MSH6) NP_000170.1:p.Phe432LeufsTer22
NM_001281492.1:c.905_906insAA (MSH6) NP_001268421.1:p.Phe302LeufsTer22
NM_001281493.1:c.389_390insAA (MSH6) NP_001268422.1:p.Phe130LeufsTer22
NM_001281494.1:c.389_390insAA (MSH6) NP_001268423.1:p.Phe130LeufsTer22
XM_005264271.1:c.998_999insAA (MSH6) XP_005264328.1:p.Phe333LeufsTer22
XM_011532798.1:c.1112_1113insAA (MSH6) XP_011531100.1:p.Phe371LeufsTer22
XM_011532799.1:c.998_999insAA (MSH6) XP_011531101.1:p.Phe333LeufsTer22
XM_011532800.1:c.998_999insAA (MSH6) XP_011531102.1:p.Phe333LeufsTer22
XM_024452819.1:c.1295_1296insAA (MSH6) XP_024308587.1:p.Phe432LeufsTer22
XM_024452820.1:c.1112_1113insAA (MSH6) XP_024308588.1:p.Phe371LeufsTer22
XM_024452821.1:c.998_999insAA (MSH6) XP_024308589.1:p.Phe333LeufsTer22
XM_024452822.1:c.389_390insAA (MSH6) XP_024308590.1:p.Phe130LeufsTer22
NM_000179.3:c.1295_1296insAA (MSH6) MANE Select NP_000170.1:p.Phe432LeufsTer22
NM_001281492.2:c.905_906insAA (MSH6) NP_001268421.1:p.Phe302LeufsTer22
NM_001281493.2:c.389_390insAA (MSH6) NP_001268422.1:p.Phe130LeufsTer22
NM_001281494.2:c.389_390insAA (MSH6) NP_001268423.1:p.Phe130LeufsTer22