Canonical Allele Identifier: CA16610929

Linked Data

ClinVar Variation Id: 410414
ClinVar RCV Id: RCV000473969
dbSNP Id: rs1060502888

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798856_47798857del , CM000664.2:g.47798856_47798857del GRCh38
NC_000002.11:g.48025995_48025996del , CM000664.1:g.48025995_48025996del GRCh37
NC_000002.10:g.47879499_47879500del NCBI36
NG_007111.1:g.20710_20711del , LRG_219:g.20710_20711del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.576_577del (MSH6) ENSP00000406248.2:p.Asn192LysfsTer20
ENST00000420813.6:c.576_577del (MSH6) ENSP00000390382.2:p.Asn192LysfsTer20
ENST00000455383.6:c.576_577del (MSH6) ENSP00000397484.2:p.Asn192LysfsTer20
ENST00000700004.2:c.873_874del (MSH6) ENSP00000514752.2:p.Asn291LysfsTer20
ENST00000699999.1:n.957_958del (MSH6)
ENST00000700000.1:c.873_874del (MSH6) ENSP00000514749.1:p.Asn291LysfsTer20
ENST00000700002.1:c.879_880del (MSH6) ENSP00000514750.1:p.Asn293LysfsTer20
ENST00000700003.1:c.627+2793_627+2794del (MSH6) ENSP00000514751.1:n.627+2793_627+2794del
ENST00000700004.1:c.30_31del (MSH6) ENSP00000514752.1:p.Asn10LysfsTer20
ENST00000234420.11:c.873_874del (MSH6) MANE Select ENSP00000234420.5:p.Asn291LysfsTer20
ENST00000540021.6:c.483_484del (MSH6) ENSP00000446475.1:p.Asn161LysfsTer20
ENST00000652107.1:c.576_577del (MSH6) ENSP00000498629.1:p.Asn192LysfsTer20
ENST00000673637.1:c.576_577del (MSH6) ENSP00000501310.1:p.Asn192LysfsTer20
ENST00000234420.9:c.873_874del (MSH6) ENSP00000234420.4:p.Asn291LysfsTer20
ENST00000405808.5:c.169+9339_169+9340del (FBXO11) ENSP00000385127.1:n.169+9339_169+9340del
ENST00000434234.5:c.*124+9138_*124+9139del (FBXO11) ENSP00000402692.1:n.*124+9138_*124+9139de...
ENST00000445503.5:c.*220_*221del (MSH6) ENSP00000405294.1:n.*220_*221del
ENST00000456246.1:c.*361_*362del (MSH6) ENSP00000410570.1:n.*361_*362del
ENST00000538136.1:c.-34_-33del (MSH6) ENSP00000438580.1:n.-34_-33del
ENST00000540021.5:c.483_484del (MSH6) ENSP00000446475.1:p.Asn161LysfsTer20
ENST00000614496.4:c.-34_-33del (MSH6) ENSP00000477844.1:n.-34_-33del
ENST00000616033.4:c.870_871del (MSH6) ENSP00000480261.1:p.Asn290LysfsTer20
ENST00000622629.4:c.-2224_-2223del (MSH6) ENSP00000482078.1:n.-2224_-2223del
NM_000179.2:c.873_874del , LRG_219t1:c.873_874del (MSH6) NP_000170.1:p.Asn291LysfsTer20
NM_001281492.1:c.483_484del (MSH6) NP_001268421.1:p.Asn161LysfsTer20
NM_001281493.1:c.-34_-33del (MSH6) NP_001268422.1:n.-34_-33del
NM_001281494.1:c.-34_-33del (MSH6) NP_001268423.1:n.-34_-33del
XM_005264271.1:c.576_577del (MSH6) XP_005264328.1:p.Asn192LysfsTer20
XM_011532798.1:c.690_691del (MSH6) XP_011531100.1:p.Asn230LysfsTer20
XM_011532799.1:c.576_577del (MSH6) XP_011531101.1:p.Asn192LysfsTer20
XM_011532800.1:c.576_577del (MSH6) XP_011531102.1:p.Asn192LysfsTer20
XM_024452819.1:c.873_874del (MSH6) XP_024308587.1:p.Asn291LysfsTer20
XM_024452820.1:c.690_691del (MSH6) XP_024308588.1:p.Asn230LysfsTer20
XM_024452821.1:c.576_577del (MSH6) XP_024308589.1:p.Asn192LysfsTer20
XM_024452822.1:c.-34_-33del (MSH6) XP_024308590.1:n.-34_-33del
NM_000179.3:c.873_874del (MSH6) MANE Select NP_000170.1:p.Asn291LysfsTer20
NM_001281492.2:c.483_484del (MSH6) NP_001268421.1:p.Asn161LysfsTer20
NM_001281493.2:c.-34_-33del (MSH6) NP_001268422.1:n.-34_-33del
NM_001281494.2:c.-34_-33del (MSH6) NP_001268423.1:n.-34_-33del