Canonical Allele Identifier: CA2580067399

Linked Data

ClinVar Variation Id: 1961484

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806501_47806510del , CM000664.2:g.47806501_47806510del GRCh38
NC_000002.11:g.48033640_48033649del , CM000664.1:g.48033640_48033649del GRCh37
NC_000002.10:g.47887144_47887153del NCBI36
NG_007111.1:g.28355_28364del , LRG_219:g.28355_28364del
NG_008397.1:g.104168_104177del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3554_3563del (MSH6) ENSP00000406248.2:p.Thr1185IlefsTer?
ENST00000420813.6:c.3554_3563del (MSH6) ENSP00000390382.2:p.Thr1185IlefsTer?
ENST00000455383.6:c.3554_3563del (MSH6) ENSP00000397484.2:p.Thr1185IlefsTer?
ENST00000700004.2:c.3467_3476del (MSH6) ENSP00000514752.2:p.Thr1156IlefsTer?
ENST00000699999.1:n.4525_4534del (MSH6)
ENST00000700000.1:c.2285_2294del (MSH6) ENSP00000514749.1:p.Thr762IlefsTer?
ENST00000700002.1:c.3857_3866del (MSH6) ENSP00000514750.1:p.Thr1286IlefsTer?
ENST00000700003.1:c.1306_1315del (MSH6) ENSP00000514751.1:n.1306_1315del
ENST00000700004.1:c.2624_2633del (MSH6) ENSP00000514752.1:p.Thr875IlefsTer?
ENST00000700005.1:n.2702_2711del (MSH6)
ENST00000700006.1:n.5009_5018del (MSH6)
ENST00000700007.1:n.2446_2455del (MSH6)
ENST00000700008.1:n.2113_2122del (MSH6)
ENST00000700009.1:n.2515_2524del (MSH6)
ENST00000700010.1:n.1260_1269del (MSH6)
ENST00000700011.1:n.3145_3154del (MSH6)
ENST00000682451.1:n.4240_4249del (FBXO11)
ENST00000684712.1:n.4502_4511del (FBXO11)
ENST00000234420.11:c.3851_3860del (MSH6) MANE Select ENSP00000234420.5:p.Thr1284IlefsTer?
ENST00000540021.6:c.3461_3470del (MSH6) ENSP00000446475.1:p.Thr1154IlefsTer?
ENST00000652107.1:c.3554_3563del (MSH6) ENSP00000498629.1:p.Thr1185IlefsTer?
ENST00000673637.1:c.3554_3563del (MSH6) ENSP00000501310.1:p.Thr1185IlefsTer?
ENST00000234420.9:c.3851_3860del (MSH6) ENSP00000234420.4:p.Thr1284IlefsTer?
ENST00000405808.5:c.169+1687_169+1696del (FBXO11) ENSP00000385127.1:n.169+1687_169+1696del
ENST00000434234.5:c.*124+1486_*124+1495del (FBXO11) ENSP00000402692.1:n.*124+1486_*124+1495del
ENST00000445503.5:c.*3198_*3207del (MSH6) ENSP00000405294.1:n.*3198_*3207del
ENST00000538136.1:c.2945_2954del (MSH6) ENSP00000438580.1:p.Thr982IlefsTer?
ENST00000540021.5:c.3461_3470del (MSH6) ENSP00000446475.1:p.Thr1154IlefsTer?
ENST00000614496.4:c.2945_2954del (MSH6) ENSP00000477844.1:p.Thr982IlefsTer?
ENST00000622629.4:c.752_761del (MSH6) ENSP00000482078.1:p.Thr251IlefsTer?
NM_000179.2:c.3851_3860del , LRG_219t1:c.3851_3860del (MSH6) NP_000170.1:p.Thr1284IlefsTer?
NM_001281492.1:c.3461_3470del (MSH6) NP_001268421.1:p.Thr1154IlefsTer?
NM_001281493.1:c.2945_2954del (MSH6) NP_001268422.1:p.Thr982IlefsTer?
NM_001281494.1:c.2945_2954del (MSH6) NP_001268423.1:p.Thr982IlefsTer?
XM_005264271.1:c.3554_3563del (MSH6) XP_005264328.1:p.Thr1185IlefsTer?
XM_011532798.1:c.3668_3677del (MSH6) XP_011531100.1:p.Thr1223IlefsTer?
XM_011532799.1:c.3554_3563del (MSH6) XP_011531101.1:p.Thr1185IlefsTer?
XM_011532800.1:c.3554_3563del (MSH6) XP_011531102.1:p.Thr1185IlefsTer?
XM_024452819.1:c.3944_3953del (MSH6) XP_024308587.1:p.Thr1315IlefsTer?
XM_024452820.1:c.3761_3770del (MSH6) XP_024308588.1:p.Thr1254IlefsTer?
XM_024452821.1:c.3647_3656del (MSH6) XP_024308589.1:p.Thr1216IlefsTer?
XM_024452822.1:c.3038_3047del (MSH6) XP_024308590.1:p.Thr1013IlefsTer?
NM_000179.3:c.3851_3860del (MSH6) MANE Select NP_000170.1:p.Thr1284IlefsTer?
NM_001281492.2:c.3461_3470del (MSH6) NP_001268421.1:p.Thr1154IlefsTer?
NM_001281493.2:c.2945_2954del (MSH6) NP_001268422.1:p.Thr982IlefsTer?
NM_001281494.2:c.2945_2954del (MSH6) NP_001268423.1:p.Thr982IlefsTer?