Canonical Allele Identifier: CA011835

Linked Data

ClinVar Variation Id: 89350
ClinVar RCV Id: RCV000074815
dbSNP Id: rs267608085

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803442_47803445del , CM000664.2:g.47803442_47803445del GRCh38
NC_000002.11:g.48030581_48030584del , CM000664.1:g.48030581_48030584del GRCh37
NC_000002.10:g.47884085_47884088del NCBI36
NG_007111.1:g.25296_25299del , LRG_219:g.25296_25299del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2898_2901del (MSH6) ENSP00000406248.2:p.Asn966LysfsTer13
ENST00000420813.6:c.2898_2901del (MSH6) ENSP00000390382.2:p.Asn966LysfsTer13
ENST00000455383.6:c.2898_2901del (MSH6) ENSP00000397484.2:p.Asn966LysfsTer13
ENST00000700004.2:c.3173-2176_3173-2173del (MSH6) ENSP00000514752.2:n.3173-2176_3173-2173de...
ENST00000699999.1:n.3279_3282del (MSH6)
ENST00000700000.1:c.1629_1632del (MSH6) ENSP00000514749.1:p.Asn543LysfsTer13
ENST00000700002.1:c.3201_3204del (MSH6) ENSP00000514750.1:p.Asn1067LysfsTer13
ENST00000700003.1:c.650_653del (MSH6) ENSP00000514751.1:p.Thr217LysfsTer5
ENST00000700004.1:c.2330-2176_2330-2173del (MSH6) ENSP00000514752.1:n.2330-2176_2330-2173de...
ENST00000700005.1:n.2046_2049del (MSH6)
ENST00000700006.1:n.2043_2046del (MSH6)
ENST00000700007.1:n.1200_1203del (MSH6)
ENST00000700008.1:n.774_777del (MSH6)
ENST00000700009.1:n.773_776del (MSH6)
ENST00000700010.1:n.604_607del (MSH6)
ENST00000700011.1:n.675_678del (MSH6)
ENST00000234420.11:c.3195_3198del (MSH6) MANE Select ENSP00000234420.5:p.Asn1065LysfsTer13
ENST00000540021.6:c.2805_2808del (MSH6) ENSP00000446475.1:p.Asn935LysfsTer13
ENST00000652107.1:c.2898_2901del (MSH6) ENSP00000498629.1:p.Asn966LysfsTer13
ENST00000673637.1:c.2898_2901del (MSH6) ENSP00000501310.1:p.Asn966LysfsTer13
ENST00000234420.9:c.3195_3198del (MSH6) ENSP00000234420.4:p.Asn1065LysfsTer13
ENST00000405808.5:c.169+4750_169+4753del (FBXO11) ENSP00000385127.1:n.169+4750_169+4753del
ENST00000434234.5:c.*124+4549_*124+4552del (FBXO11) ENSP00000402692.1:n.*124+4549_*124+4552de...
ENST00000445503.5:c.*2542_*2545del (MSH6) ENSP00000405294.1:n.*2542_*2545del
ENST00000538136.1:c.2289_2292del (MSH6) ENSP00000438580.1:p.Asn763LysfsTer13
ENST00000540021.5:c.2805_2808del (MSH6) ENSP00000446475.1:p.Asn935LysfsTer13
ENST00000614496.4:c.2289_2292del (MSH6) ENSP00000477844.1:p.Asn763LysfsTer13
ENST00000622629.4:c.99_102del (MSH6) ENSP00000482078.1:p.Asn33LysfsTer13
NM_000179.2:c.3195_3198del , LRG_219t1:c.3195_3198del (MSH6) NP_000170.1:p.Asn1065LysfsTer13
NM_001281492.1:c.2805_2808del (MSH6) NP_001268421.1:p.Asn935LysfsTer13
NM_001281493.1:c.2289_2292del (MSH6) NP_001268422.1:p.Asn763LysfsTer13
NM_001281494.1:c.2289_2292del (MSH6) NP_001268423.1:p.Asn763LysfsTer13
XM_005264271.1:c.2898_2901del (MSH6) XP_005264328.1:p.Asn966LysfsTer13
XM_011532798.1:c.3012_3015del (MSH6) XP_011531100.1:p.Asn1004LysfsTer13
XM_011532799.1:c.2898_2901del (MSH6) XP_011531101.1:p.Asn966LysfsTer13
XM_011532800.1:c.2898_2901del (MSH6) XP_011531102.1:p.Asn966LysfsTer13
XM_024452819.1:c.3195_3198del (MSH6) XP_024308587.1:p.Asn1065LysfsTer13
XM_024452820.1:c.3012_3015del (MSH6) XP_024308588.1:p.Asn1004LysfsTer13
XM_024452821.1:c.2898_2901del (MSH6) XP_024308589.1:p.Asn966LysfsTer13
XM_024452822.1:c.2289_2292del (MSH6) XP_024308590.1:p.Asn763LysfsTer13
NM_000179.3:c.3195_3198del (MSH6) MANE Select NP_000170.1:p.Asn1065LysfsTer13
NM_001281492.2:c.2805_2808del (MSH6) NP_001268421.1:p.Asn935LysfsTer13
NM_001281493.2:c.2289_2292del (MSH6) NP_001268422.1:p.Asn763LysfsTer13
NM_001281494.2:c.2289_2292del (MSH6) NP_001268423.1:p.Asn763LysfsTer13