Canonical Allele Identifier: CA2695200534

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673764
• ClinVar RCV Id: RCV003450401 ; RCV003759858

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803548_47803549del , CM000664.2:g.47803548_47803549del	GRCh38
NC_000002.11:g.48030687_48030688del , CM000664.1:g.48030687_48030688del	GRCh37
NC_000002.10:g.47884191_47884192del	NCBI36
NG_007111.1:g.25402_25403del , LRG_219:g.25402_25403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3004_3005del (MSH6)	ENSP00000406248.2:p.Lys1002AspfsTer6
ENST00000420813.6:c.3004_3005del (MSH6)	ENSP00000390382.2:p.Lys1002AspfsTer6
ENST00000455383.6:c.3004_3005del (MSH6)	ENSP00000397484.2:p.Lys1002AspfsTer6
ENST00000700004.2:c.3173-2070_3173-2069del (MSH6)	ENSP00000514752.2:n.3173-2070_3173-2069del
ENST00000699999.1:n.3385_3386del (MSH6)
ENST00000700000.1:c.1735_1736del (MSH6)	ENSP00000514749.1:p.Lys579AspfsTer6
ENST00000700002.1:c.3307_3308del (MSH6)	ENSP00000514750.1:p.Lys1103AspfsTer6
ENST00000700003.1:c.756_757del (MSH6)	ENSP00000514751.1:n.756_757del
ENST00000700004.1:c.2330-2070_2330-2069del (MSH6)	ENSP00000514752.1:n.2330-2070_2330-2069del
ENST00000700005.1:n.2152_2153del (MSH6)
ENST00000700006.1:n.2149_2150del (MSH6)
ENST00000700007.1:n.1306_1307del (MSH6)
ENST00000700008.1:n.880_881del (MSH6)
ENST00000700009.1:n.879_880del (MSH6)
ENST00000700010.1:n.710_711del (MSH6)
ENST00000700011.1:n.781_782del (MSH6)
ENST00000234420.11:c.3301_3302del (MSH6) MANE Select	ENSP00000234420.5:p.Lys1101AspfsTer6
ENST00000540021.6:c.2911_2912del (MSH6)	ENSP00000446475.1:p.Lys971AspfsTer6
ENST00000652107.1:c.3004_3005del (MSH6)	ENSP00000498629.1:p.Lys1002AspfsTer6
ENST00000673637.1:c.3004_3005del (MSH6)	ENSP00000501310.1:p.Lys1002AspfsTer6
ENST00000234420.9:c.3301_3302del (MSH6)	ENSP00000234420.4:p.Lys1101AspfsTer6
ENST00000405808.5:c.169+4646_169+4647del (FBXO11)	ENSP00000385127.1:n.169+4646_169+4647del
ENST00000434234.5:c.*124+4445_*124+4446del (FBXO11)	ENSP00000402692.1:n.*124+4445_*124+4446del
ENST00000445503.5:c.*2648_*2649del (MSH6)	ENSP00000405294.1:n.*2648_*2649del
ENST00000538136.1:c.2395_2396del (MSH6)	ENSP00000438580.1:p.Lys799AspfsTer6
ENST00000540021.5:c.2911_2912del (MSH6)	ENSP00000446475.1:p.Lys971AspfsTer6
ENST00000614496.4:c.2395_2396del (MSH6)	ENSP00000477844.1:p.Lys799AspfsTer6
ENST00000622629.4:c.205_206del (MSH6)	ENSP00000482078.1:p.Lys69AspfsTer6
NM_000179.2:c.3301_3302del , LRG_219t1:c.3301_3302del (MSH6)	NP_000170.1:p.Lys1101AspfsTer6
NM_001281492.1:c.2911_2912del (MSH6)	NP_001268421.1:p.Lys971AspfsTer6
NM_001281493.1:c.2395_2396del (MSH6)	NP_001268422.1:p.Lys799AspfsTer6
NM_001281494.1:c.2395_2396del (MSH6)	NP_001268423.1:p.Lys799AspfsTer6
XM_005264271.1:c.3004_3005del (MSH6)	XP_005264328.1:p.Lys1002AspfsTer6
XM_011532798.1:c.3118_3119del (MSH6)	XP_011531100.1:p.Lys1040AspfsTer6
XM_011532799.1:c.3004_3005del (MSH6)	XP_011531101.1:p.Lys1002AspfsTer6
XM_011532800.1:c.3004_3005del (MSH6)	XP_011531102.1:p.Lys1002AspfsTer6
XM_024452819.1:c.3301_3302del (MSH6)	XP_024308587.1:p.Lys1101AspfsTer6
XM_024452820.1:c.3118_3119del (MSH6)	XP_024308588.1:p.Lys1040AspfsTer6
XM_024452821.1:c.3004_3005del (MSH6)	XP_024308589.1:p.Lys1002AspfsTer6
XM_024452822.1:c.2395_2396del (MSH6)	XP_024308590.1:p.Lys799AspfsTer6
NM_000179.3:c.3301_3302del (MSH6) MANE Select	NP_000170.1:p.Lys1101AspfsTer6
NM_001281492.2:c.2911_2912del (MSH6)	NP_001268421.1:p.Lys971AspfsTer6
NM_001281493.2:c.2395_2396del (MSH6)	NP_001268422.1:p.Lys799AspfsTer6
NM_001281494.2:c.2395_2396del (MSH6)	NP_001268423.1:p.Lys799AspfsTer6