Canonical Allele Identifier: CA2580068073

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1796268
• ClinVar RCV Id: RCV002441642 ; RCV003102740

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800789_47800792del , CM000664.2:g.47800789_47800792del	GRCh38
NC_000002.11:g.48027928_48027931del , CM000664.1:g.48027928_48027931del	GRCh37
NC_000002.10:g.47881432_47881435del	NCBI36
NG_007111.1:g.22643_22646del , LRG_219:g.22643_22646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2509_2512del (MSH6)	ENSP00000406248.2:p.Asp837MetfsTer8
ENST00000420813.6:c.2509_2512del (MSH6)	ENSP00000390382.2:p.Asp837MetfsTer8
ENST00000455383.6:c.2509_2512del (MSH6)	ENSP00000397484.2:p.Asp837MetfsTer8
ENST00000700004.2:c.2806_2809del (MSH6)	ENSP00000514752.2:p.Asp936MetfsTer8
ENST00000699999.1:n.2890_2893del (MSH6)
ENST00000700000.1:c.1606+1200_1606+1203del (MSH6)	ENSP00000514749.1:n.1606+1200_1606+1203del
ENST00000700002.1:c.2812_2815del (MSH6)	ENSP00000514750.1:p.Asp938MetfsTer8
ENST00000700003.1:c.628-2631_628-2628del (MSH6)	ENSP00000514751.1:n.628-2631_628-2628del
ENST00000700004.1:c.1963_1966del (MSH6)	ENSP00000514752.1:p.Asp655MetfsTer8
ENST00000234420.11:c.2806_2809del (MSH6) MANE Select	ENSP00000234420.5:p.Asp936MetfsTer8
ENST00000540021.6:c.2416_2419del (MSH6)	ENSP00000446475.1:p.Asp806MetfsTer8
ENST00000652107.1:c.2509_2512del (MSH6)	ENSP00000498629.1:p.Asp837MetfsTer8
ENST00000673637.1:c.2509_2512del (MSH6)	ENSP00000501310.1:p.Asp837MetfsTer8
ENST00000234420.9:c.2806_2809del (MSH6)	ENSP00000234420.4:p.Asp936MetfsTer8
ENST00000405808.5:c.169+7404_169+7407del (FBXO11)	ENSP00000385127.1:n.169+7404_169+7407del
ENST00000434234.5:c.*124+7203_*124+7206del (FBXO11)	ENSP00000402692.1:n.*124+7203_*124+7206del
ENST00000445503.5:c.*2153_*2156del (MSH6)	ENSP00000405294.1:n.*2153_*2156del
ENST00000538136.1:c.1900_1903del (MSH6)	ENSP00000438580.1:p.Asp634MetfsTer8
ENST00000540021.5:c.2416_2419del (MSH6)	ENSP00000446475.1:p.Asp806MetfsTer8
ENST00000614496.4:c.1900_1903del (MSH6)	ENSP00000477844.1:p.Asp634MetfsTer8
ENST00000616033.4:c.2803_2806del (MSH6)	ENSP00000480261.1:p.Asp935MetfsTer8
ENST00000622629.4:c.-291_-288del (MSH6)	ENSP00000482078.1:n.-291_-288del
NM_000179.2:c.2806_2809del , LRG_219t1:c.2806_2809del (MSH6)	NP_000170.1:p.Asp936MetfsTer8
NM_001281492.1:c.2416_2419del (MSH6)	NP_001268421.1:p.Asp806MetfsTer8
NM_001281493.1:c.1900_1903del (MSH6)	NP_001268422.1:p.Asp634MetfsTer8
NM_001281494.1:c.1900_1903del (MSH6)	NP_001268423.1:p.Asp634MetfsTer8
XM_005264271.1:c.2509_2512del (MSH6)	XP_005264328.1:p.Asp837MetfsTer8
XM_011532798.1:c.2623_2626del (MSH6)	XP_011531100.1:p.Asp875MetfsTer8
XM_011532799.1:c.2509_2512del (MSH6)	XP_011531101.1:p.Asp837MetfsTer8
XM_011532800.1:c.2509_2512del (MSH6)	XP_011531102.1:p.Asp837MetfsTer8
XM_024452819.1:c.2806_2809del (MSH6)	XP_024308587.1:p.Asp936MetfsTer8
XM_024452820.1:c.2623_2626del (MSH6)	XP_024308588.1:p.Asp875MetfsTer8
XM_024452821.1:c.2509_2512del (MSH6)	XP_024308589.1:p.Asp837MetfsTer8
XM_024452822.1:c.1900_1903del (MSH6)	XP_024308590.1:p.Asp634MetfsTer8
NM_000179.3:c.2806_2809del (MSH6) MANE Select	NP_000170.1:p.Asp936MetfsTer8
NM_001281492.2:c.2416_2419del (MSH6)	NP_001268421.1:p.Asp806MetfsTer8
NM_001281493.2:c.1900_1903del (MSH6)	NP_001268422.1:p.Asp634MetfsTer8
NM_001281494.2:c.1900_1903del (MSH6)	NP_001268423.1:p.Asp634MetfsTer8