Canonical Allele Identifier: CA2496048250

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798888_47798890delinsGAA , CM000664.2:g.47798888_47798890delinsGAA GRCh38
NC_000002.11:g.48026027_48026029delinsGAA , CM000664.1:g.48026027_48026029delinsGAA GRCh37
NC_000002.10:g.47879531_47879533delinsGAA NCBI36
NG_007111.1:g.20742_20744delinsGAA , LRG_219:g.20742_20744delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.608_610delinsGAA (MSH6) ENSP00000406248.2:p.Arg203=
ENST00000420813.6:c.608_610delinsGAA (MSH6) ENSP00000390382.2:p.Arg203=
ENST00000455383.6:c.608_610delinsGAA (MSH6) ENSP00000397484.2:p.Arg203=
ENST00000700004.2:c.905_907delinsGAA (MSH6) ENSP00000514752.2:p.Arg302=
ENST00000699999.1:n.989_991delinsGAA (MSH6)
ENST00000700000.1:c.905_907delinsGAA (MSH6) ENSP00000514749.1:p.Arg302=
ENST00000700002.1:c.911_913delinsGAA (MSH6) ENSP00000514750.1:p.Arg304=
ENST00000700003.1:c.627+2825_627+2827delinsGAA (MSH6) ENSP00000514751.1:n.627+2825_627+2827delinsGAA
ENST00000700004.1:c.62_64delinsGAA (MSH6) ENSP00000514752.1:p.Arg21=
ENST00000234420.11:c.905_907delinsGAA (MSH6) MANE Select ENSP00000234420.5:p.Arg302=
ENST00000540021.6:c.515_517delinsGAA (MSH6) ENSP00000446475.1:p.Arg172=
ENST00000652107.1:c.608_610delinsGAA (MSH6) ENSP00000498629.1:p.Arg203=
ENST00000673637.1:c.608_610delinsGAA (MSH6) ENSP00000501310.1:p.Arg203=
ENST00000234420.9:c.905_907delinsGAA (MSH6) ENSP00000234420.4:p.Arg302=
ENST00000405808.5:c.169+9305_169+9307delinsTTC (FBXO11) ENSP00000385127.1:n.169+9305_169+9307delinsTTC
ENST00000434234.5:c.*124+9104_*124+9106delinsTTC (FBXO11) ENSP00000402692.1:n.*124+9104_*124+9106delinsTTC
ENST00000445503.5:c.*252_*254delinsGAA (MSH6) ENSP00000405294.1:n.*252_*254delinsGAA
ENST00000456246.1:c.*393_*395delinsGAA (MSH6) ENSP00000410570.1:n.*393_*395delinsGAA
ENST00000538136.1:c.-2_1delinsGAA (MSH6)
ENST00000540021.5:c.515_517delinsGAA (MSH6) ENSP00000446475.1:p.Arg172=
ENST00000614496.4:c.-2_1delinsGAA (MSH6)
ENST00000616033.4:c.902_904delinsGAA (MSH6) ENSP00000480261.1:p.Arg301=
ENST00000622629.4:c.-2192_-2190delinsGAA (MSH6) ENSP00000482078.1:n.-2192_-2190delinsGAA
NM_000179.2:c.905_907delinsGAA , LRG_219t1:c.905_907delinsGAA (MSH6) NP_000170.1:p.Arg302=
NM_001281492.1:c.515_517delinsGAA (MSH6) NP_001268421.1:p.Arg172=
NM_001281493.1:c.-2_1delinsGAA (MSH6)
NM_001281494.1:c.-2_1delinsGAA (MSH6)
XM_005264271.1:c.608_610delinsGAA (MSH6) XP_005264328.1:p.Arg203=
XM_011532798.1:c.722_724delinsGAA (MSH6) XP_011531100.1:p.Arg241=
XM_011532799.1:c.608_610delinsGAA (MSH6) XP_011531101.1:p.Arg203=
XM_011532800.1:c.608_610delinsGAA (MSH6) XP_011531102.1:p.Arg203=
XM_024452819.1:c.905_907delinsGAA (MSH6) XP_024308587.1:p.Arg302=
XM_024452820.1:c.722_724delinsGAA (MSH6) XP_024308588.1:p.Arg241=
XM_024452821.1:c.608_610delinsGAA (MSH6) XP_024308589.1:p.Arg203=
XM_024452822.1:c.-2_1delinsGAA (MSH6)
NM_000179.3:c.905_907delinsGAA (MSH6) MANE Select NP_000170.1:p.Arg302=
NM_001281492.2:c.515_517delinsGAA (MSH6) NP_001268421.1:p.Arg172=
NM_001281493.2:c.-2_1delinsGAA (MSH6)
NM_001281494.2:c.-2_1delinsGAA (MSH6)