Canonical Allele Identifier: CA2580067276

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2430174
• ClinVar RCV Id: RCV003128176

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798947_47798950del , CM000664.2:g.47798947_47798950del	GRCh38
NC_000002.11:g.48026086_48026089del , CM000664.1:g.48026086_48026089del	GRCh37
NC_000002.10:g.47879590_47879593del	NCBI36
NG_007111.1:g.20801_20804del , LRG_219:g.20801_20804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.667_670del (MSH6)	ENSP00000406248.2:p.Ala223ProfsTer15
ENST00000420813.6:c.667_670del (MSH6)	ENSP00000390382.2:p.Ala223ProfsTer15
ENST00000455383.6:c.667_670del (MSH6)	ENSP00000397484.2:p.Ala223ProfsTer15
ENST00000700004.2:c.964_967del (MSH6)	ENSP00000514752.2:p.Ala322ProfsTer15
ENST00000699999.1:n.1048_1051del (MSH6)
ENST00000700000.1:c.964_967del (MSH6)	ENSP00000514749.1:p.Ala322ProfsTer15
ENST00000700002.1:c.970_973del (MSH6)	ENSP00000514750.1:p.Ala324ProfsTer15
ENST00000700003.1:c.627+2884_627+2887del (MSH6)	ENSP00000514751.1:n.627+2884_627+2887del
ENST00000700004.1:c.121_124del (MSH6)	ENSP00000514752.1:p.Ala41ProfsTer15
ENST00000234420.11:c.964_967del (MSH6) MANE Select	ENSP00000234420.5:p.Ala322ProfsTer15
ENST00000540021.6:c.574_577del (MSH6)	ENSP00000446475.1:p.Ala192ProfsTer15
ENST00000652107.1:c.667_670del (MSH6)	ENSP00000498629.1:p.Ala223ProfsTer15
ENST00000673637.1:c.667_670del (MSH6)	ENSP00000501310.1:p.Ala223ProfsTer15
ENST00000234420.9:c.964_967del (MSH6)	ENSP00000234420.4:p.Ala322ProfsTer15
ENST00000405808.5:c.169+9247_169+9250del (FBXO11)	ENSP00000385127.1:n.169+9247_169+9250del
ENST00000434234.5:c.*124+9046_*124+9049del (FBXO11)	ENSP00000402692.1:n.*124+9046_*124+9049del
ENST00000445503.5:c.*311_*314del (MSH6)	ENSP00000405294.1:n.*311_*314del
ENST00000538136.1:c.58_61del (MSH6)	ENSP00000438580.1:p.Ala20ProfsTer15
ENST00000540021.5:c.574_577del (MSH6)	ENSP00000446475.1:p.Ala192ProfsTer15
ENST00000614496.4:c.58_61del (MSH6)	ENSP00000477844.1:p.Ala20ProfsTer15
ENST00000616033.4:c.961_964del (MSH6)	ENSP00000480261.1:p.Ala321ProfsTer15
ENST00000622629.4:c.-2133_-2130del (MSH6)	ENSP00000482078.1:n.-2133_-2130del
NM_000179.2:c.964_967del , LRG_219t1:c.964_967del (MSH6)	NP_000170.1:p.Ala322ProfsTer15
NM_001281492.1:c.574_577del (MSH6)	NP_001268421.1:p.Ala192ProfsTer15
NM_001281493.1:c.58_61del (MSH6)	NP_001268422.1:p.Ala20ProfsTer15
NM_001281494.1:c.58_61del (MSH6)	NP_001268423.1:p.Ala20ProfsTer15
XM_005264271.1:c.667_670del (MSH6)	XP_005264328.1:p.Ala223ProfsTer15
XM_011532798.1:c.781_784del (MSH6)	XP_011531100.1:p.Ala261ProfsTer15
XM_011532799.1:c.667_670del (MSH6)	XP_011531101.1:p.Ala223ProfsTer15
XM_011532800.1:c.667_670del (MSH6)	XP_011531102.1:p.Ala223ProfsTer15
XM_024452819.1:c.964_967del (MSH6)	XP_024308587.1:p.Ala322ProfsTer15
XM_024452820.1:c.781_784del (MSH6)	XP_024308588.1:p.Ala261ProfsTer15
XM_024452821.1:c.667_670del (MSH6)	XP_024308589.1:p.Ala223ProfsTer15
XM_024452822.1:c.58_61del (MSH6)	XP_024308590.1:p.Ala20ProfsTer15
NM_000179.3:c.964_967del (MSH6) MANE Select	NP_000170.1:p.Ala322ProfsTer15
NM_001281492.2:c.574_577del (MSH6)	NP_001268421.1:p.Ala192ProfsTer15
NM_001281493.2:c.58_61del (MSH6)	NP_001268422.1:p.Ala20ProfsTer15
NM_001281494.2:c.58_61del (MSH6)	NP_001268423.1:p.Ala20ProfsTer15