Canonical Allele Identifier: CA2695200578

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673749
• ClinVar RCV Id: RCV003450386

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805648_47805688dup , CM000664.2:g.47805648_47805688dup	GRCh38
NC_000002.11:g.48032787_48032827dup , CM000664.1:g.48032787_48032827dup	GRCh37
NC_000002.10:g.47886291_47886331dup	NCBI36
NG_007111.1:g.27502_27542dup , LRG_219:g.27502_27542dup
NG_008397.1:g.104990_105030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3290_3330dup (MSH6)	ENSP00000406248.2:p.Val1111LysfsTer20
ENST00000420813.6:c.3290_3330dup (MSH6)	ENSP00000390382.2:p.Val1111LysfsTer20
ENST00000455383.6:c.3290_3330dup (MSH6)	ENSP00000397484.2:p.Val1111LysfsTer20
ENST00000700004.2:c.3203_3243dup (MSH6)	ENSP00000514752.2:p.Val1082LysfsTer20
ENST00000699999.1:n.4261_4301dup (MSH6)
ENST00000700000.1:c.2021_2061dup (MSH6)	ENSP00000514749.1:p.Val688LysfsTer20
ENST00000700002.1:c.3593_3633dup (MSH6)	ENSP00000514750.1:p.Val1212LysfsTer20
ENST00000700003.1:c.1042_1082dup (MSH6)	ENSP00000514751.1:n.1042_1082dup
ENST00000700004.1:c.2360_2400dup (MSH6)	ENSP00000514752.1:p.Val801LysfsTer20
ENST00000700005.1:n.2438_2478dup (MSH6)
ENST00000700006.1:n.4249_4289dup (MSH6)
ENST00000700007.1:n.2182_2222dup (MSH6)
ENST00000700008.1:n.1756_1796dup (MSH6)
ENST00000700009.1:n.1755_1795dup (MSH6)
ENST00000700010.1:n.996_1036dup (MSH6)
ENST00000700011.1:n.2881_2921dup (MSH6)
ENST00000234420.11:c.3587_3627dup (MSH6) MANE Select	ENSP00000234420.5:p.Val1210LysfsTer20
ENST00000540021.6:c.3197_3237dup (MSH6)	ENSP00000446475.1:p.Val1080LysfsTer20
ENST00000652107.1:c.3290_3330dup (MSH6)	ENSP00000498629.1:p.Val1111LysfsTer20
ENST00000673637.1:c.3290_3330dup (MSH6)	ENSP00000501310.1:p.Val1111LysfsTer20
ENST00000234420.9:c.3587_3627dup (MSH6)	ENSP00000234420.4:p.Val1210LysfsTer20
ENST00000405808.5:c.169+2509_169+2549dup (FBXO11)	ENSP00000385127.1:n.169+2509_169+2549dup
ENST00000434234.5:c.*124+2308_*124+2348dup (FBXO11)	ENSP00000402692.1:n.*124+2308_*124+2348dup
ENST00000445503.5:c.*2934_*2974dup (MSH6)	ENSP00000405294.1:n.*2934_*2974dup
ENST00000538136.1:c.2681_2721dup (MSH6)	ENSP00000438580.1:p.Val908LysfsTer20
ENST00000540021.5:c.3197_3237dup (MSH6)	ENSP00000446475.1:p.Val1080LysfsTer20
ENST00000614496.4:c.2681_2721dup (MSH6)	ENSP00000477844.1:p.Val908LysfsTer20
ENST00000622629.4:c.491_531dup (MSH6)	ENSP00000482078.1:p.Val178LysfsTer20
NM_000179.2:c.3587_3627dup , LRG_219t1:c.3587_3627dup (MSH6)	NP_000170.1:p.Val1210LysfsTer20
NM_001281492.1:c.3197_3237dup (MSH6)	NP_001268421.1:p.Val1080LysfsTer20
NM_001281493.1:c.2681_2721dup (MSH6)	NP_001268422.1:p.Val908LysfsTer20
NM_001281494.1:c.2681_2721dup (MSH6)	NP_001268423.1:p.Val908LysfsTer20
XM_005264271.1:c.3290_3330dup (MSH6)	XP_005264328.1:p.Val1111LysfsTer20
XM_011532798.1:c.3404_3444dup (MSH6)	XP_011531100.1:p.Val1149LysfsTer20
XM_011532799.1:c.3290_3330dup (MSH6)	XP_011531101.1:p.Val1111LysfsTer20
XM_011532800.1:c.3290_3330dup (MSH6)	XP_011531102.1:p.Val1111LysfsTer20
XM_024452819.1:c.3587_3627dup (MSH6)	XP_024308587.1:p.Val1210LysfsTer20
XM_024452820.1:c.3404_3444dup (MSH6)	XP_024308588.1:p.Val1149LysfsTer20
XM_024452821.1:c.3290_3330dup (MSH6)	XP_024308589.1:p.Val1111LysfsTer20
XM_024452822.1:c.2681_2721dup (MSH6)	XP_024308590.1:p.Val908LysfsTer20
NM_000179.3:c.3587_3627dup (MSH6) MANE Select	NP_000170.1:p.Val1210LysfsTer20
NM_001281492.2:c.3197_3237dup (MSH6)	NP_001268421.1:p.Val1080LysfsTer20
NM_001281493.2:c.2681_2721dup (MSH6)	NP_001268422.1:p.Val908LysfsTer20
NM_001281494.2:c.2681_2721dup (MSH6)	NP_001268423.1:p.Val908LysfsTer20