Canonical Allele Identifier: CA2580066967

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1728997
• ClinVar RCV Id: RCV002445441

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803464_47803488del , CM000664.2:g.47803464_47803488del	GRCh38
NC_000002.11:g.48030603_48030627del , CM000664.1:g.48030603_48030627del	GRCh37
NC_000002.10:g.47884107_47884131del	NCBI36
NG_007111.1:g.25318_25342del , LRG_219:g.25318_25342del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2920_2944del (MSH6)	ENSP00000406248.2:p.Pro974CysfsTer9
ENST00000420813.6:c.2920_2944del (MSH6)	ENSP00000390382.2:p.Pro974CysfsTer9
ENST00000455383.6:c.2920_2944del (MSH6)	ENSP00000397484.2:p.Pro974CysfsTer9
ENST00000700004.2:c.3173-2154_3173-2130del (MSH6)	ENSP00000514752.2:n.3173-2154_3173-2130del
ENST00000699999.1:n.3301_3325del (MSH6)
ENST00000700000.1:c.1651_1675del (MSH6)	ENSP00000514749.1:p.Pro551CysfsTer9
ENST00000700002.1:c.3223_3247del (MSH6)	ENSP00000514750.1:p.Pro1075CysfsTer9
ENST00000700003.1:c.672_696del (MSH6)	ENSP00000514751.1:n.[c.672_696del;Leu225AlafsTer11]
ENST00000700004.1:c.2330-2154_2330-2130del (MSH6)	ENSP00000514752.1:n.2330-2154_2330-2130del
ENST00000700005.1:n.2068_2092del (MSH6)
ENST00000700006.1:n.2065_2089del (MSH6)
ENST00000700007.1:n.1222_1246del (MSH6)
ENST00000700008.1:n.796_820del (MSH6)
ENST00000700009.1:n.795_819del (MSH6)
ENST00000700010.1:n.626_650del (MSH6)
ENST00000700011.1:n.697_721del (MSH6)
ENST00000234420.11:c.3217_3241del (MSH6) MANE Select	ENSP00000234420.5:p.Pro1073CysfsTer9
ENST00000540021.6:c.2827_2851del (MSH6)	ENSP00000446475.1:p.Pro943CysfsTer9
ENST00000652107.1:c.2920_2944del (MSH6)	ENSP00000498629.1:p.Pro974CysfsTer9
ENST00000673637.1:c.2920_2944del (MSH6)	ENSP00000501310.1:p.Pro974CysfsTer9
ENST00000234420.9:c.3217_3241del (MSH6)	ENSP00000234420.4:p.Pro1073CysfsTer9
ENST00000405808.5:c.169+4709_169+4733del (FBXO11)	ENSP00000385127.1:n.169+4709_169+4733del
ENST00000434234.5:c.*124+4508_*124+4532del (FBXO11)	ENSP00000402692.1:n.*124+4508_*124+4532del
ENST00000445503.5:c.*2564_*2588del (MSH6)	ENSP00000405294.1:n.*2564_*2588del
ENST00000538136.1:c.2311_2335del (MSH6)	ENSP00000438580.1:p.Pro771CysfsTer9
ENST00000540021.5:c.2827_2851del (MSH6)	ENSP00000446475.1:p.Pro943CysfsTer9
ENST00000614496.4:c.2311_2335del (MSH6)	ENSP00000477844.1:p.Pro771CysfsTer9
ENST00000622629.4:c.121_145del (MSH6)	ENSP00000482078.1:p.Pro41CysfsTer9
NM_000179.2:c.3217_3241del , LRG_219t1:c.3217_3241del (MSH6)	NP_000170.1:p.Pro1073CysfsTer9
NM_001281492.1:c.2827_2851del (MSH6)	NP_001268421.1:p.Pro943CysfsTer9
NM_001281493.1:c.2311_2335del (MSH6)	NP_001268422.1:p.Pro771CysfsTer9
NM_001281494.1:c.2311_2335del (MSH6)	NP_001268423.1:p.Pro771CysfsTer9
XM_005264271.1:c.2920_2944del (MSH6)	XP_005264328.1:p.Pro974CysfsTer9
XM_011532798.1:c.3034_3058del (MSH6)	XP_011531100.1:p.Pro1012CysfsTer9
XM_011532799.1:c.2920_2944del (MSH6)	XP_011531101.1:p.Pro974CysfsTer9
XM_011532800.1:c.2920_2944del (MSH6)	XP_011531102.1:p.Pro974CysfsTer9
XM_024452819.1:c.3217_3241del (MSH6)	XP_024308587.1:p.Pro1073CysfsTer9
XM_024452820.1:c.3034_3058del (MSH6)	XP_024308588.1:p.Pro1012CysfsTer9
XM_024452821.1:c.2920_2944del (MSH6)	XP_024308589.1:p.Pro974CysfsTer9
XM_024452822.1:c.2311_2335del (MSH6)	XP_024308590.1:p.Pro771CysfsTer9
NM_000179.3:c.3217_3241del (MSH6) MANE Select	NP_000170.1:p.Pro1073CysfsTer9
NM_001281492.2:c.2827_2851del (MSH6)	NP_001268421.1:p.Pro943CysfsTer9
NM_001281493.2:c.2311_2335del (MSH6)	NP_001268422.1:p.Pro771CysfsTer9
NM_001281494.2:c.2311_2335del (MSH6)	NP_001268423.1:p.Pro771CysfsTer9