Canonical Allele Identifier: CA1139657002

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 958041
• ClinVar RCV Id: RCV001231129
• dbSNP Id: rs1669239621

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798625_47798626delinsTA , CM000664.2:g.47798625_47798626delinsTA	GRCh38
NC_000002.11:g.48025764_48025765delinsTA , CM000664.1:g.48025764_48025765delinsTA	GRCh37
NC_000002.10:g.47879268_47879269delinsTA	NCBI36
NG_007111.1:g.20479_20480delinsTA , LRG_219:g.20479_20480delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.345_346delinsTA (MSH6)	ENSP00000406248.2:p.Val116Ile
ENST00000420813.6:c.345_346delinsTA (MSH6)	ENSP00000390382.2:p.Val116Ile
ENST00000455383.6:c.345_346delinsTA (MSH6)	ENSP00000397484.2:p.Val116Ile
ENST00000700004.2:c.642_643delinsTA (MSH6)	ENSP00000514752.2:p.Val215Ile
ENST00000699999.1:n.726_727delinsTA (MSH6)
ENST00000700000.1:c.642_643delinsTA (MSH6)	ENSP00000514749.1:p.Val215Ile
ENST00000700002.1:c.648_649delinsTA (MSH6)	ENSP00000514750.1:p.Val217Ile
ENST00000700003.1:c.627+2562_627+2563delinsTA (MSH6)	ENSP00000514751.1:n.627+2562_627+2563delinsTA
ENST00000234420.11:c.642_643delinsTA (MSH6) MANE Select	ENSP00000234420.5:p.Val215Ile
ENST00000540021.6:c.252_253delinsTA (MSH6)	ENSP00000446475.1:p.Val85Ile
ENST00000652107.1:c.345_346delinsTA (MSH6)	ENSP00000498629.1:p.Val116Ile
ENST00000673637.1:c.345_346delinsTA (MSH6)	ENSP00000501310.1:p.Val116Ile
ENST00000673922.1:n.364_365delinsTA (MSH6)
ENST00000234420.9:c.642_643delinsTA (MSH6)	ENSP00000234420.4:p.Val215Ile
ENST00000405808.5:c.170-9186_170-9185delinsTA (FBXO11)	ENSP00000385127.1:n.170-9186_170-9185delinsTA
ENST00000411819.1:c.345_346delinsTA (MSH6)	ENSP00000406248.1:p.Val116Ile
ENST00000434234.5:c.*125-9186_*125-9185delinsTA (FBXO11)	ENSP00000402692.1:n.*125-9186_*125-9185delinsTA
ENST00000445503.5:c.472_473delinsTA (MSH6)	ENSP00000405294.1:p.Arg158Tyr
ENST00000455383.5:c.345_346delinsTA (MSH6)	ENSP00000397484.1:p.Tyr115=
ENST00000456246.1:c.*130_*131delinsTA (MSH6)	ENSP00000410570.1:n.*130_*131delinsTA
ENST00000538136.1:c.-265_-264delinsTA (MSH6)	ENSP00000438580.1:n.-265_-264delinsTA
ENST00000540021.5:c.252_253delinsTA (MSH6)	ENSP00000446475.1:p.Val85Ile
ENST00000614496.4:c.-265_-264delinsTA (MSH6)	ENSP00000477844.1:n.-265_-264delinsTA
ENST00000616033.4:c.639_640delinsTA (MSH6)	ENSP00000480261.1:p.Val214Ile
ENST00000622629.4:c.-2455_-2454delinsTA (MSH6)	ENSP00000482078.1:n.-2455_-2454delinsTA
NM_000179.2:c.642_643delinsTA , LRG_219t1:c.642_643delinsTA (MSH6)	NP_000170.1:p.Val215Ile
NM_001281492.1:c.252_253delinsTA (MSH6)	NP_001268421.1:p.Val85Ile
NM_001281493.1:c.-265_-264delinsTA (MSH6)	NP_001268422.1:n.-265_-264delinsTA
NM_001281494.1:c.-265_-264delinsTA (MSH6)	NP_001268423.1:n.-265_-264delinsTA
XM_005264271.1:c.345_346delinsTA (MSH6)	XP_005264328.1:p.Val116Ile
XM_011532798.1:c.459_460delinsTA (MSH6)	XP_011531100.1:p.Val154Ile
XM_011532799.1:c.345_346delinsTA (MSH6)	XP_011531101.1:p.Val116Ile
XM_011532800.1:c.345_346delinsTA (MSH6)	XP_011531102.1:p.Val116Ile
XM_024452819.1:c.642_643delinsTA (MSH6)	XP_024308587.1:p.Val215Ile
XM_024452820.1:c.459_460delinsTA (MSH6)	XP_024308588.1:p.Val154Ile
XM_024452821.1:c.345_346delinsTA (MSH6)	XP_024308589.1:p.Val116Ile
XM_024452822.1:c.-265_-264delinsTA (MSH6)	XP_024308590.1:n.-265_-264delinsTA
NM_000179.3:c.642_643delinsTA (MSH6) MANE Select	NP_000170.1:p.Val215Ile
NM_001281492.2:c.252_253delinsTA (MSH6)	NP_001268421.1:p.Val85Ile
NM_001281493.2:c.-265_-264delinsTA (MSH6)	NP_001268422.1:n.-265_-264delinsTA
NM_001281494.2:c.-265_-264delinsTA (MSH6)	NP_001268423.1:n.-265_-264delinsTA