Canonical Allele Identifier: CA2695200580

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673733
• ClinVar RCV Id: RCV003450370

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805662_47805681del , CM000664.2:g.47805662_47805681del	GRCh38
NC_000002.11:g.48032801_48032820del , CM000664.1:g.48032801_48032820del	GRCh37
NC_000002.10:g.47886305_47886324del	NCBI36
NG_007111.1:g.27516_27535del , LRG_219:g.27516_27535del
NG_008397.1:g.104996_105015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3304_3323del (MSH6)	ENSP00000406248.2:p.Leu1102PhefsTer7
ENST00000420813.6:c.3304_3323del (MSH6)	ENSP00000390382.2:p.Leu1102PhefsTer7
ENST00000455383.6:c.3304_3323del (MSH6)	ENSP00000397484.2:p.Leu1102PhefsTer7
ENST00000700004.2:c.3217_3236del (MSH6)	ENSP00000514752.2:p.Leu1073PhefsTer7
ENST00000699999.1:n.4275_4294del (MSH6)
ENST00000700000.1:c.2035_2054del (MSH6)	ENSP00000514749.1:p.Leu679PhefsTer7
ENST00000700002.1:c.3607_3626del (MSH6)	ENSP00000514750.1:p.Leu1203PhefsTer7
ENST00000700003.1:c.1056_1075del (MSH6)	ENSP00000514751.1:n.1056_1075del
ENST00000700004.1:c.2374_2393del (MSH6)	ENSP00000514752.1:p.Leu792PhefsTer7
ENST00000700005.1:n.2452_2471del (MSH6)
ENST00000700006.1:n.4263_4282del (MSH6)
ENST00000700007.1:n.2196_2215del (MSH6)
ENST00000700008.1:n.1770_1789del (MSH6)
ENST00000700009.1:n.1769_1788del (MSH6)
ENST00000700010.1:n.1010_1029del (MSH6)
ENST00000700011.1:n.2895_2914del (MSH6)
ENST00000234420.11:c.3601_3620del (MSH6) MANE Select	ENSP00000234420.5:p.Leu1201PhefsTer7
ENST00000540021.6:c.3211_3230del (MSH6)	ENSP00000446475.1:p.Leu1071PhefsTer7
ENST00000652107.1:c.3304_3323del (MSH6)	ENSP00000498629.1:p.Leu1102PhefsTer7
ENST00000673637.1:c.3304_3323del (MSH6)	ENSP00000501310.1:p.Leu1102PhefsTer7
ENST00000234420.9:c.3601_3620del (MSH6)	ENSP00000234420.4:p.Leu1201PhefsTer7
ENST00000405808.5:c.169+2515_169+2534del (FBXO11)	ENSP00000385127.1:n.169+2515_169+2534del
ENST00000434234.5:c.*124+2314_*124+2333del (FBXO11)	ENSP00000402692.1:n.*124+2314_*124+2333del
ENST00000445503.5:c.*2948_*2967del (MSH6)	ENSP00000405294.1:n.*2948_*2967del
ENST00000538136.1:c.2695_2714del (MSH6)	ENSP00000438580.1:p.Leu899PhefsTer7
ENST00000540021.5:c.3211_3230del (MSH6)	ENSP00000446475.1:p.Leu1071PhefsTer7
ENST00000614496.4:c.2695_2714del (MSH6)	ENSP00000477844.1:p.Leu899PhefsTer7
ENST00000622629.4:c.505_524del (MSH6)	ENSP00000482078.1:p.Leu169PhefsTer7
NM_000179.2:c.3601_3620del , LRG_219t1:c.3601_3620del (MSH6)	NP_000170.1:p.Leu1201PhefsTer7
NM_001281492.1:c.3211_3230del (MSH6)	NP_001268421.1:p.Leu1071PhefsTer7
NM_001281493.1:c.2695_2714del (MSH6)	NP_001268422.1:p.Leu899PhefsTer7
NM_001281494.1:c.2695_2714del (MSH6)	NP_001268423.1:p.Leu899PhefsTer7
XM_005264271.1:c.3304_3323del (MSH6)	XP_005264328.1:p.Leu1102PhefsTer7
XM_011532798.1:c.3418_3437del (MSH6)	XP_011531100.1:p.Leu1140PhefsTer7
XM_011532799.1:c.3304_3323del (MSH6)	XP_011531101.1:p.Leu1102PhefsTer7
XM_011532800.1:c.3304_3323del (MSH6)	XP_011531102.1:p.Leu1102PhefsTer7
XM_024452819.1:c.3601_3620del (MSH6)	XP_024308587.1:p.Leu1201PhefsTer7
XM_024452820.1:c.3418_3437del (MSH6)	XP_024308588.1:p.Leu1140PhefsTer7
XM_024452821.1:c.3304_3323del (MSH6)	XP_024308589.1:p.Leu1102PhefsTer7
XM_024452822.1:c.2695_2714del (MSH6)	XP_024308590.1:p.Leu899PhefsTer7
NM_000179.3:c.3601_3620del (MSH6) MANE Select	NP_000170.1:p.Leu1201PhefsTer7
NM_001281492.2:c.3211_3230del (MSH6)	NP_001268421.1:p.Leu1071PhefsTer7
NM_001281493.2:c.2695_2714del (MSH6)	NP_001268422.1:p.Leu899PhefsTer7
NM_001281494.2:c.2695_2714del (MSH6)	NP_001268423.1:p.Leu899PhefsTer7