Canonical Allele Identifier: CA2699328030

Linked Data

dbSNP Id: rs2104562671

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806586del , CM000664.2:g.47806586del GRCh38
NC_000002.11:g.48033725del , CM000664.1:g.48033725del GRCh37
NC_000002.10:g.47887229del NCBI36
NG_007111.1:g.28440del , LRG_219:g.28440del
NG_008397.1:g.104091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3639del (MSH6) ENSP00000406248.2:p.Ile1214PhefsTer14
ENST00000420813.6:c.3639del (MSH6) ENSP00000390382.2:p.Ile1214PhefsTer14
ENST00000455383.6:c.3639del (MSH6) ENSP00000397484.2:p.Ile1214PhefsTer14
ENST00000700004.2:c.3552del (MSH6) ENSP00000514752.2:p.Ile1185PhefsTer14
ENST00000699999.1:n.4610del (MSH6)
ENST00000700000.1:c.2370del (MSH6) ENSP00000514749.1:p.Ile791PhefsTer14
ENST00000700002.1:c.3942del (MSH6) ENSP00000514750.1:p.Ile1315PhefsTer14
ENST00000700003.1:c.1391del (MSH6) ENSP00000514751.1:n.1391del
ENST00000700004.1:c.2709del (MSH6) ENSP00000514752.1:p.Ile904PhefsTer14
ENST00000700005.1:n.2787del (MSH6)
ENST00000700006.1:n.5094del (MSH6)
ENST00000700007.1:n.2531del (MSH6)
ENST00000700008.1:n.2198del (MSH6)
ENST00000700009.1:n.2600del (MSH6)
ENST00000700010.1:n.1345del (MSH6)
ENST00000700011.1:n.3230del (MSH6)
ENST00000682451.1:n.4163del (FBXO11)
ENST00000684712.1:n.4425del (FBXO11)
ENST00000234420.11:c.3936del (MSH6) MANE Select ENSP00000234420.5:p.Ile1313PhefsTer14
ENST00000540021.6:c.3546del (MSH6) ENSP00000446475.1:p.Ile1183PhefsTer14
ENST00000652107.1:c.3639del (MSH6) ENSP00000498629.1:p.Ile1214PhefsTer14
ENST00000673637.1:c.3639del (MSH6) ENSP00000501310.1:p.Ile1214PhefsTer14
ENST00000234420.9:c.3936del (MSH6) ENSP00000234420.4:p.Ile1313PhefsTer14
ENST00000405808.5:c.169+1610del (FBXO11) ENSP00000385127.1:n.169+1610del
ENST00000434234.5:c.*124+1409del (FBXO11) ENSP00000402692.1:n.*124+1409del
ENST00000445503.5:c.*3283del (MSH6) ENSP00000405294.1:n.*3283del
ENST00000538136.1:c.3030del (MSH6) ENSP00000438580.1:p.Ile1011PhefsTer14
ENST00000540021.5:c.3546del (MSH6) ENSP00000446475.1:p.Ile1183PhefsTer14
ENST00000614496.4:c.3030del (MSH6) ENSP00000477844.1:p.Ile1011PhefsTer14
ENST00000622629.4:c.837del (MSH6) ENSP00000482078.1:p.Ile280PhefsTer14
NM_000179.2:c.3936del , LRG_219t1:c.3936del (MSH6) NP_000170.1:p.Ile1313PhefsTer14
NM_001281492.1:c.3546del (MSH6) NP_001268421.1:p.Ile1183PhefsTer14
NM_001281493.1:c.3030del (MSH6) NP_001268422.1:p.Ile1011PhefsTer14
NM_001281494.1:c.3030del (MSH6) NP_001268423.1:p.Ile1011PhefsTer14
XM_005264271.1:c.3639del (MSH6) XP_005264328.1:p.Ile1214PhefsTer14
XM_011532798.1:c.3753del (MSH6) XP_011531100.1:p.Ile1252PhefsTer14
XM_011532799.1:c.3639del (MSH6) XP_011531101.1:p.Ile1214PhefsTer14
XM_011532800.1:c.3639del (MSH6) XP_011531102.1:p.Ile1214PhefsTer14
XM_024452819.1:c.4029del (MSH6) XP_024308587.1:p.Ile1344PhefsTer14
XM_024452820.1:c.3846del (MSH6) XP_024308588.1:p.Ile1283PhefsTer14
XM_024452821.1:c.3732del (MSH6) XP_024308589.1:p.Ile1245PhefsTer14
XM_024452822.1:c.3123del (MSH6) XP_024308590.1:p.Ile1042PhefsTer14
NM_000179.3:c.3936del (MSH6) MANE Select NP_000170.1:p.Ile1313PhefsTer14
NM_001281492.2:c.3546del (MSH6) NP_001268421.1:p.Ile1183PhefsTer14
NM_001281493.2:c.3030del (MSH6) NP_001268422.1:p.Ile1011PhefsTer14
NM_001281494.2:c.3030del (MSH6) NP_001268423.1:p.Ile1011PhefsTer14