Canonical Allele Identifier: CA014890

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89492
• ClinVar RCV Id: RCV000074960
• dbSNP Id: rs587779299
• MyVariant Identifiers: chr2:g.48033758_48033768del (hg19) ; chr2:g.47806619_47806629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806619_47806629del , CM000664.2:g.47806619_47806629del	GRCh38
NC_000002.11:g.48033758_48033768del , CM000664.1:g.48033758_48033768del	GRCh37
NC_000002.10:g.47887262_47887272del	NCBI36
NG_007111.1:g.28473_28483del , LRG_219:g.28473_28483del
NG_008397.1:g.104047_104057del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3672_3682del (MSH6)	ENSP00000406248.2:p.Phe1224LeufsTer14
ENST00000420813.6:c.3672_3682del (MSH6)	ENSP00000390382.2:p.Phe1224LeufsTer14
ENST00000455383.6:c.3672_3682del (MSH6)	ENSP00000397484.2:p.Phe1224LeufsTer14
ENST00000700004.2:c.3585_3595del (MSH6)	ENSP00000514752.2:p.Phe1195LeufsTer14
ENST00000699999.1:n.4643_4653del (MSH6)
ENST00000700000.1:c.2403_2413del (MSH6)	ENSP00000514749.1:p.Phe801LeufsTer14
ENST00000700002.1:c.3975_3985del (MSH6)	ENSP00000514750.1:p.Phe1325LeufsTer14
ENST00000700003.1:c.1424_1434del (MSH6)	ENSP00000514751.1:n.1424_1434del
ENST00000700004.1:c.2742_2752del (MSH6)	ENSP00000514752.1:p.Phe914LeufsTer14
ENST00000700005.1:n.2820_2830del (MSH6)
ENST00000700006.1:n.5127_5137del (MSH6)
ENST00000700007.1:n.2564_2574del (MSH6)
ENST00000700008.1:n.2231_2241del (MSH6)
ENST00000700009.1:n.2633_2643del (MSH6)
ENST00000700010.1:n.1378_1388del (MSH6)
ENST00000700011.1:n.3263_3273del (MSH6)
ENST00000682451.1:n.4119_4129del (FBXO11)
ENST00000684712.1:n.4381_4391del (FBXO11)
ENST00000234420.11:c.3969_3979del (MSH6) MANE Select	ENSP00000234420.5:p.Phe1323LeufsTer14
ENST00000540021.6:c.3579_3589del (MSH6)	ENSP00000446475.1:p.Phe1193LeufsTer14
ENST00000652107.1:c.3672_3682del (MSH6)	ENSP00000498629.1:p.Phe1224LeufsTer14
ENST00000673637.1:c.3672_3682del (MSH6)	ENSP00000501310.1:p.Phe1224LeufsTer14
ENST00000234420.9:c.3969_3979del (MSH6)	ENSP00000234420.4:p.Phe1323LeufsTer14
ENST00000405808.5:c.169+1566_169+1576del (FBXO11)	ENSP00000385127.1:n.169+1566_169+1576del
ENST00000434234.5:c.*124+1365_*124+1375del (FBXO11)	ENSP00000402692.1:n.*124+1365_*124+1375del
ENST00000445503.5:c.*3316_*3326del (MSH6)	ENSP00000405294.1:n.*3316_*3326del
ENST00000538136.1:c.3063_3073del (MSH6)	ENSP00000438580.1:p.Phe1021LeufsTer14
ENST00000540021.5:c.3579_3589del (MSH6)	ENSP00000446475.1:p.Phe1193LeufsTer14
ENST00000614496.4:c.3063_3073del (MSH6)	ENSP00000477844.1:p.Phe1021LeufsTer14
ENST00000622629.4:c.870_880del (MSH6)	ENSP00000482078.1:p.Phe290LeufsTer14
NM_000179.2:c.3969_3979del , LRG_219t1:c.3969_3979del (MSH6)	NP_000170.1:p.Phe1323LeufsTer14
NM_001281492.1:c.3579_3589del (MSH6)	NP_001268421.1:p.Phe1193LeufsTer14
NM_001281493.1:c.3063_3073del (MSH6)	NP_001268422.1:p.Phe1021LeufsTer14
NM_001281494.1:c.3063_3073del (MSH6)	NP_001268423.1:p.Phe1021LeufsTer14
XM_005264271.1:c.3672_3682del (MSH6)	XP_005264328.1:p.Phe1224LeufsTer14
XM_011532798.1:c.3786_3796del (MSH6)	XP_011531100.1:p.Phe1262LeufsTer14
XM_011532799.1:c.3672_3682del (MSH6)	XP_011531101.1:p.Phe1224LeufsTer14
XM_011532800.1:c.3672_3682del (MSH6)	XP_011531102.1:p.Phe1224LeufsTer14
XM_024452819.1:c.4062_4072del (MSH6)	XP_024308587.1:p.Phe1354LeufsTer14
XM_024452820.1:c.3879_3889del (MSH6)	XP_024308588.1:p.Phe1293LeufsTer14
XM_024452821.1:c.3765_3775del (MSH6)	XP_024308589.1:p.Phe1255LeufsTer14
XM_024452822.1:c.3156_3166del (MSH6)	XP_024308590.1:p.Phe1052LeufsTer14
NM_000179.3:c.3969_3979del (MSH6) MANE Select	NP_000170.1:p.Phe1323LeufsTer14
NM_001281492.2:c.3579_3589del (MSH6)	NP_001268421.1:p.Phe1193LeufsTer14
NM_001281493.2:c.3063_3073del (MSH6)	NP_001268422.1:p.Phe1021LeufsTer14
NM_001281494.2:c.3063_3073del (MSH6)	NP_001268423.1:p.Phe1021LeufsTer14