Canonical Allele Identifier: CA2582342381

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2583823
• ClinVar RCV Id: RCV003334745

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803598_47803599del , CM000664.2:g.47803598_47803599del	GRCh38
NC_000002.11:g.48030737_48030738del , CM000664.1:g.48030737_48030738del	GRCh37
NC_000002.10:g.47884241_47884242del	NCBI36
NG_007111.1:g.25452_25453del , LRG_219:g.25452_25453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3054_3055del (MSH6)	ENSP00000406248.2:p.Cys1018Ter
ENST00000420813.6:c.3054_3055del (MSH6)	ENSP00000390382.2:p.Cys1018Ter
ENST00000455383.6:c.3054_3055del (MSH6)	ENSP00000397484.2:p.Cys1018Ter
ENST00000700004.2:c.3173-2020_3173-2019del (MSH6)	ENSP00000514752.2:n.3173-2020_3173-2019del
ENST00000699999.1:n.3435_3436del (MSH6)
ENST00000700000.1:c.1785_1786del (MSH6)	ENSP00000514749.1:p.Cys595Ter
ENST00000700002.1:c.3357_3358del (MSH6)	ENSP00000514750.1:p.Cys1119Ter
ENST00000700003.1:c.806_807del (MSH6)	ENSP00000514751.1:n.806_807del
ENST00000700004.1:c.2330-2020_2330-2019del (MSH6)	ENSP00000514752.1:n.2330-2020_2330-2019del
ENST00000700005.1:n.2202_2203del (MSH6)
ENST00000700006.1:n.2199_2200del (MSH6)
ENST00000700007.1:n.1356_1357del (MSH6)
ENST00000700008.1:n.930_931del (MSH6)
ENST00000700009.1:n.929_930del (MSH6)
ENST00000700010.1:n.760_761del (MSH6)
ENST00000700011.1:n.831_832del (MSH6)
ENST00000234420.11:c.3351_3352del (MSH6) MANE Select	ENSP00000234420.5:p.Cys1117Ter
ENST00000540021.6:c.2961_2962del (MSH6)	ENSP00000446475.1:p.Cys987Ter
ENST00000652107.1:c.3054_3055del (MSH6)	ENSP00000498629.1:p.Cys1018Ter
ENST00000673637.1:c.3054_3055del (MSH6)	ENSP00000501310.1:p.Cys1018Ter
ENST00000234420.9:c.3351_3352del (MSH6)	ENSP00000234420.4:p.Cys1117Ter
ENST00000405808.5:c.169+4598_169+4599del (FBXO11)	ENSP00000385127.1:n.169+4598_169+4599del
ENST00000434234.5:c.*124+4397_*124+4398del (FBXO11)	ENSP00000402692.1:n.*124+4397_*124+4398del
ENST00000445503.5:c.*2698_*2699del (MSH6)	ENSP00000405294.1:n.*2698_*2699del
ENST00000538136.1:c.2445_2446del (MSH6)	ENSP00000438580.1:p.Cys815Ter
ENST00000540021.5:c.2961_2962del (MSH6)	ENSP00000446475.1:p.Cys987Ter
ENST00000614496.4:c.2445_2446del (MSH6)	ENSP00000477844.1:p.Cys815Ter
ENST00000622629.4:c.255_256del (MSH6)	ENSP00000482078.1:p.Cys85Ter
NM_000179.2:c.3351_3352del , LRG_219t1:c.3351_3352del (MSH6)	NP_000170.1:p.Cys1117Ter
NM_001281492.1:c.2961_2962del (MSH6)	NP_001268421.1:p.Cys987Ter
NM_001281493.1:c.2445_2446del (MSH6)	NP_001268422.1:p.Cys815Ter
NM_001281494.1:c.2445_2446del (MSH6)	NP_001268423.1:p.Cys815Ter
XM_005264271.1:c.3054_3055del (MSH6)	XP_005264328.1:p.Cys1018Ter
XM_011532798.1:c.3168_3169del (MSH6)	XP_011531100.1:p.Cys1056Ter
XM_011532799.1:c.3054_3055del (MSH6)	XP_011531101.1:p.Cys1018Ter
XM_011532800.1:c.3054_3055del (MSH6)	XP_011531102.1:p.Cys1018Ter
XM_024452819.1:c.3351_3352del (MSH6)	XP_024308587.1:p.Cys1117Ter
XM_024452820.1:c.3168_3169del (MSH6)	XP_024308588.1:p.Cys1056Ter
XM_024452821.1:c.3054_3055del (MSH6)	XP_024308589.1:p.Cys1018Ter
XM_024452822.1:c.2445_2446del (MSH6)	XP_024308590.1:p.Cys815Ter
NM_000179.3:c.3351_3352del (MSH6) MANE Select	NP_000170.1:p.Cys1117Ter
NM_001281492.2:c.2961_2962del (MSH6)	NP_001268421.1:p.Cys987Ter
NM_001281493.2:c.2445_2446del (MSH6)	NP_001268422.1:p.Cys815Ter
NM_001281494.2:c.2445_2446del (MSH6)	NP_001268423.1:p.Cys815Ter