Canonical Allele Identifier: CA915943937

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 650268
• ClinVar RCV Id: RCV000805385
• dbSNP Id: rs1572729044

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800857_47800868del , CM000664.2:g.47800857_47800868del	GRCh38
NC_000002.11:g.48027996_48028007del , CM000664.1:g.48027996_48028007del	GRCh37
NC_000002.10:g.47881500_47881511del	NCBI36
NG_007111.1:g.22711_22722del , LRG_219:g.22711_22722del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2577_2588del (MSH6)	ENSP00000406248.2:p.Gln859_Ile863delinsHis
ENST00000420813.6:c.2577_2588del (MSH6)	ENSP00000390382.2:p.Gln859_Ile863delinsHis
ENST00000455383.6:c.2577_2588del (MSH6)	ENSP00000397484.2:p.Gln859_Ile863delinsHis
ENST00000700004.2:c.2874_2885del (MSH6)	ENSP00000514752.2:p.Gln958_Ile962delinsHis
ENST00000699999.1:n.2958_2969del (MSH6)
ENST00000700000.1:c.1606+1268_1606+1279del (MSH6)	ENSP00000514749.1:n.1606+1268_1606+1279del
ENST00000700002.1:c.2880_2891del (MSH6)	ENSP00000514750.1:p.Gln960_Ile964delinsHis
ENST00000700003.1:c.628-2563_628-2552del (MSH6)	ENSP00000514751.1:n.628-2563_628-2552del
ENST00000700004.1:c.2031_2042del (MSH6)	ENSP00000514752.1:p.Gln677_Ile681delinsHis
ENST00000234420.11:c.2874_2885del (MSH6) MANE Select	ENSP00000234420.5:p.Gln958_Ile962delinsHis
ENST00000540021.6:c.2484_2495del (MSH6)	ENSP00000446475.1:p.Gln828_Ile832delinsHis
ENST00000652107.1:c.2577_2588del (MSH6)	ENSP00000498629.1:p.Gln859_Ile863delinsHis
ENST00000673637.1:c.2577_2588del (MSH6)	ENSP00000501310.1:p.Gln859_Ile863delinsHis
ENST00000234420.9:c.2874_2885del (MSH6)	ENSP00000234420.4:p.Gln958_Ile962delinsHis
ENST00000405808.5:c.169+7327_169+7338del (FBXO11)	ENSP00000385127.1:n.169+7327_169+7338del
ENST00000434234.5:c.*124+7126_*124+7137del (FBXO11)	ENSP00000402692.1:n.*124+7126_*124+7137del
ENST00000445503.5:c.*2221_*2232del (MSH6)	ENSP00000405294.1:n.*2221_*2232del
ENST00000538136.1:c.1968_1979del (MSH6)	ENSP00000438580.1:p.Gln656_Ile660delinsHis
ENST00000540021.5:c.2484_2495del (MSH6)	ENSP00000446475.1:p.Gln828_Ile832delinsHis
ENST00000614496.4:c.1968_1979del (MSH6)	ENSP00000477844.1:p.Gln656_Ile660delinsHis
ENST00000616033.4:c.2871_2882del (MSH6)	ENSP00000480261.1:p.Gln957_Ile961delinsHis
ENST00000622629.4:c.-223_-212del (MSH6)	ENSP00000482078.1:n.-223_-212del
NM_000179.2:c.2874_2885del , LRG_219t1:c.2874_2885del (MSH6)	NP_000170.1:p.Gln958_Ile962delinsHis
NM_001281492.1:c.2484_2495del (MSH6)	NP_001268421.1:p.Gln828_Ile832delinsHis
NM_001281493.1:c.1968_1979del (MSH6)	NP_001268422.1:p.Gln656_Ile660delinsHis
NM_001281494.1:c.1968_1979del (MSH6)	NP_001268423.1:p.Gln656_Ile660delinsHis
XM_005264271.1:c.2577_2588del (MSH6)	XP_005264328.1:p.Gln859_Ile863delinsHis
XM_011532798.1:c.2691_2702del (MSH6)	XP_011531100.1:p.Gln897_Ile901delinsHis
XM_011532799.1:c.2577_2588del (MSH6)	XP_011531101.1:p.Gln859_Ile863delinsHis
XM_011532800.1:c.2577_2588del (MSH6)	XP_011531102.1:p.Gln859_Ile863delinsHis
XM_024452819.1:c.2874_2885del (MSH6)	XP_024308587.1:p.Gln958_Ile962delinsHis
XM_024452820.1:c.2691_2702del (MSH6)	XP_024308588.1:p.Gln897_Ile901delinsHis
XM_024452821.1:c.2577_2588del (MSH6)	XP_024308589.1:p.Gln859_Ile863delinsHis
XM_024452822.1:c.1968_1979del (MSH6)	XP_024308590.1:p.Gln656_Ile660delinsHis
NM_000179.3:c.2874_2885del (MSH6) MANE Select	NP_000170.1:p.Gln958_Ile962delinsHis
NM_001281492.2:c.2484_2495del (MSH6)	NP_001268421.1:p.Gln828_Ile832delinsHis
NM_001281493.2:c.1968_1979del (MSH6)	NP_001268422.1:p.Gln656_Ile660delinsHis
NM_001281494.2:c.1968_1979del (MSH6)	NP_001268423.1:p.Gln656_Ile660delinsHis