Canonical Allele Identifier: CA658655763

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 486903
• ClinVar RCV Id: RCV000567397
• dbSNP Id: rs1553333583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806566_47806580delinsTTCTTGTTATTCAAAAGGGACATA , CM000664.2:g.47806566_47806580delinsTTCTTGTTATTCAAAAGGGACATA	GRCh38
NC_000002.11:g.48033705_48033719delinsTTCTTGTTATTCAAAAGGGACATA , CM000664.1:g.48033705_48033719delinsTTCTTGTTATTCAAAAGGGACATA	GRCh37
NC_000002.10:g.47887209_47887223delinsTTCTTGTTATTCAAAAGGGACATA	NCBI36
NG_007111.1:g.28420_28434delinsTTCTTGTTATTCAAAAGGGACATA , LRG_219:g.28420_28434delinsTTCTTGTTATTCAAAAGGGACATA
NG_008397.1:g.104096_104110delinsTATGTCCCTTTTGAATAACAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3619_3633delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000406248.2:p.Ala1207_Glu1211delinsPheLeuLeuPheLysArgAs...
ENST00000420813.6:c.3619_3633delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000390382.2:p.Ala1207_Glu1211delinsPheLeuLeuPheLysArgAs...
ENST00000455383.6:c.3619_3633delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000397484.2:p.Ala1207_Glu1211delinsPheLeuLeuPheLysArgAs...
ENST00000700004.2:c.3532_3546delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000514752.2:p.Ala1178_Glu1182delinsPheLeuLeuPheLysArgAs...
ENST00000699999.1:n.4590_4604delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)
ENST00000700000.1:c.2350_2364delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000514749.1:p.Ala784_Glu788delinsPheLeuLeuPheLysArgAspI...
ENST00000700002.1:c.3922_3936delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000514750.1:p.Ala1308_Glu1312delinsPheLeuLeuPheLysArgAs...
ENST00000700003.1:c.1371_1385delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000514751.1:n.1371_1385delinsTTCTTGTTATTCAAAAGGGACATA
ENST00000700004.1:c.2689_2703delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000514752.1:p.Ala897_Glu901delinsPheLeuLeuPheLysArgAspI...
ENST00000700005.1:n.2767_2781delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)
ENST00000700006.1:n.5074_5088delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)
ENST00000700007.1:n.2511_2525delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)
ENST00000700008.1:n.2178_2192delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)
ENST00000700009.1:n.2580_2594delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)
ENST00000700010.1:n.1325_1339delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)
ENST00000700011.1:n.3210_3224delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)
ENST00000682451.1:n.4168_4182delinsTATGTCCCTTTTGAATAACAAGAA (FBXO11)
ENST00000684712.1:n.4430_4444delinsTATGTCCCTTTTGAATAACAAGAA (FBXO11)
ENST00000234420.11:c.3916_3930delinsTTCTTGTTATTCAAAAGGGACATA (MSH6) MANE Select	ENSP00000234420.5:p.Ala1306_Glu1310delinsPheLeuLeuPheLysArgAs...
ENST00000540021.6:c.3526_3540delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000446475.1:p.Ala1176_Glu1180delinsPheLeuLeuPheLysArgAs...
ENST00000652107.1:c.3619_3633delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000498629.1:p.Ala1207_Glu1211delinsPheLeuLeuPheLysArgAs...
ENST00000673637.1:c.3619_3633delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000501310.1:p.Ala1207_Glu1211delinsPheLeuLeuPheLysArgAs...
ENST00000234420.9:c.3916_3930delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000234420.4:p.Ala1306_Glu1310delinsPheLeuLeuPheLysArgAs...
ENST00000405808.5:c.169+1615_169+1629delinsTATGTCCCTTTTGAATAACAAGAA (FBXO11)	ENSP00000385127.1:n.169+1615_169+1629delinsTATGTCCCTTTTGAATAA...
ENST00000434234.5:c.*124+1414_*124+1428delinsTATGTCCCTTTTGAATAACAAGAA (FBXO11)	ENSP00000402692.1:n.*124+1414_*124+1428delinsTATGTCCCTTTTGAAT...
ENST00000445503.5:c.*3263_*3277delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000405294.1:n.*3263_*3277delinsTTCTTGTTATTCAAAAGGGACATA...
ENST00000538136.1:c.3010_3024delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000438580.1:p.Ala1004_Glu1008delinsPheLeuLeuPheLysArgAs...
ENST00000540021.5:c.3526_3540delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000446475.1:p.Ala1176_Glu1180delinsPheLeuLeuPheLysArgAs...
ENST00000614496.4:c.3010_3024delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000477844.1:p.Ala1004_Glu1008delinsPheLeuLeuPheLysArgAs...
ENST00000622629.4:c.817_831delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	ENSP00000482078.1:p.Ala273_Glu277delinsPheLeuLeuPheLysArgAspI...
NM_000179.2:c.3916_3930delinsTTCTTGTTATTCAAAAGGGACATA , LRG_219t1:c.3916_3930delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	NP_000170.1:p.Ala1306_Glu1310delinsPheLeuLeuPheLysArgAspIle
NM_001281492.1:c.3526_3540delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	NP_001268421.1:p.Ala1176_Glu1180delinsPheLeuLeuPheLysArgAspIl...
NM_001281493.1:c.3010_3024delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	NP_001268422.1:p.Ala1004_Glu1008delinsPheLeuLeuPheLysArgAspIl...
NM_001281494.1:c.3010_3024delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	NP_001268423.1:p.Ala1004_Glu1008delinsPheLeuLeuPheLysArgAspIl...
XM_005264271.1:c.3619_3633delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	XP_005264328.1:p.Ala1207_Glu1211delinsPheLeuLeuPheLysArgAspIl...
XM_011532798.1:c.3733_3747delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	XP_011531100.1:p.Ala1245_Glu1249delinsPheLeuLeuPheLysArgAspIl...
XM_011532799.1:c.3619_3633delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	XP_011531101.1:p.Ala1207_Glu1211delinsPheLeuLeuPheLysArgAspIl...
XM_011532800.1:c.3619_3633delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	XP_011531102.1:p.Ala1207_Glu1211delinsPheLeuLeuPheLysArgAspIl...
XM_024452819.1:c.4009_4023delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	XP_024308587.1:p.Ala1337_Glu1341delinsPheLeuLeuPheLysArgAspIl...
XM_024452820.1:c.3826_3840delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	XP_024308588.1:p.Ala1276_Glu1280delinsPheLeuLeuPheLysArgAspIl...
XM_024452821.1:c.3712_3726delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	XP_024308589.1:p.Ala1238_Glu1242delinsPheLeuLeuPheLysArgAspIl...
XM_024452822.1:c.3103_3117delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	XP_024308590.1:p.Ala1035_Glu1039delinsPheLeuLeuPheLysArgAspIl...
NM_000179.3:c.3916_3930delinsTTCTTGTTATTCAAAAGGGACATA (MSH6) MANE Select	NP_000170.1:p.Ala1306_Glu1310delinsPheLeuLeuPheLysArgAspIle
NM_001281492.2:c.3526_3540delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	NP_001268421.1:p.Ala1176_Glu1180delinsPheLeuLeuPheLysArgAspIl...
NM_001281493.2:c.3010_3024delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	NP_001268422.1:p.Ala1004_Glu1008delinsPheLeuLeuPheLysArgAspIl...
NM_001281494.2:c.3010_3024delinsTTCTTGTTATTCAAAAGGGACATA (MSH6)	NP_001268423.1:p.Ala1004_Glu1008delinsPheLeuLeuPheLysArgAspIl...