Canonical Allele Identifier: CA013268

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89407
• ClinVar RCV Id: RCV000074875
• dbSNP Id: rs63750296
• MyVariant Identifiers: chr2:g.48032129_48032130insA (hg19) ; chr2:g.47804990_47804991insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804990_47804991insA , CM000664.2:g.47804990_47804991insA	GRCh38
NC_000002.11:g.48032129_48032130insA , CM000664.1:g.48032129_48032130insA	GRCh37
NC_000002.10:g.47885633_47885634insA	NCBI36
NG_007111.1:g.26844_26845insA , LRG_219:g.26844_26845insA
NG_008397.1:g.105685_105686insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3222_3223insA (MSH6)	ENSP00000406248.2:p.Phe1075IlefsTer3
ENST00000420813.6:c.3222_3223insA (MSH6)	ENSP00000390382.2:p.Phe1075IlefsTer3
ENST00000455383.6:c.3222_3223insA (MSH6)	ENSP00000397484.2:p.Phe1075IlefsTer3
ENST00000700004.2:c.3173-628_3173-627insA (MSH6)	ENSP00000514752.2:n.3173-628_3173-627insA
ENST00000699999.1:n.3603_3604insA (MSH6)
ENST00000700000.1:c.1953_1954insA (MSH6)	ENSP00000514749.1:p.Phe652IlefsTer3
ENST00000700002.1:c.3525_3526insA (MSH6)	ENSP00000514750.1:p.Phe1176IlefsTer3
ENST00000700003.1:c.974_975insA (MSH6)	ENSP00000514751.1:n.974_975insA
ENST00000700004.1:c.2330-628_2330-627insA (MSH6)	ENSP00000514752.1:n.2330-628_2330-627insA
ENST00000700005.1:n.2370_2371insA (MSH6)
ENST00000700006.1:n.3591_3592insA (MSH6)
ENST00000700007.1:n.1524_1525insA (MSH6)
ENST00000700008.1:n.1098_1099insA (MSH6)
ENST00000700009.1:n.1097_1098insA (MSH6)
ENST00000700010.1:n.928_929insA (MSH6)
ENST00000700011.1:n.2223_2224insA (MSH6)
ENST00000234420.11:c.3519_3520insA (MSH6) MANE Select	ENSP00000234420.5:p.Phe1174IlefsTer3
ENST00000540021.6:c.3129_3130insA (MSH6)	ENSP00000446475.1:p.Phe1044IlefsTer3
ENST00000652107.1:c.3222_3223insA (MSH6)	ENSP00000498629.1:p.Phe1075IlefsTer3
ENST00000673637.1:c.3222_3223insA (MSH6)	ENSP00000501310.1:p.Phe1075IlefsTer3
ENST00000234420.9:c.3519_3520insA (MSH6)	ENSP00000234420.4:p.Phe1174IlefsTer3
ENST00000405808.5:c.169+3204_169+3205insT (FBXO11)	ENSP00000385127.1:n.169+3204_169+3205insT
ENST00000434234.5:c.*124+3003_*124+3004insT (FBXO11)	ENSP00000402692.1:n.*124+3003_*124+3004insT
ENST00000445503.5:c.*2866_*2867insA (MSH6)	ENSP00000405294.1:n.*2866_*2867insA
ENST00000538136.1:c.2613_2614insA (MSH6)	ENSP00000438580.1:p.Phe872IlefsTer3
ENST00000540021.5:c.3129_3130insA (MSH6)	ENSP00000446475.1:p.Phe1044IlefsTer3
ENST00000614496.4:c.2613_2614insA (MSH6)	ENSP00000477844.1:p.Phe872IlefsTer3
ENST00000622629.4:c.423_424insA (MSH6)	ENSP00000482078.1:p.Phe142IlefsTer3
NM_000179.2:c.3519_3520insA , LRG_219t1:c.3519_3520insA (MSH6)	NP_000170.1:p.Phe1174IlefsTer3
NM_001281492.1:c.3129_3130insA (MSH6)	NP_001268421.1:p.Phe1044IlefsTer3
NM_001281493.1:c.2613_2614insA (MSH6)	NP_001268422.1:p.Phe872IlefsTer3
NM_001281494.1:c.2613_2614insA (MSH6)	NP_001268423.1:p.Phe872IlefsTer3
XM_005264271.1:c.3222_3223insA (MSH6)	XP_005264328.1:p.Phe1075IlefsTer3
XM_011532798.1:c.3336_3337insA (MSH6)	XP_011531100.1:p.Phe1113IlefsTer3
XM_011532799.1:c.3222_3223insA (MSH6)	XP_011531101.1:p.Phe1075IlefsTer3
XM_011532800.1:c.3222_3223insA (MSH6)	XP_011531102.1:p.Phe1075IlefsTer3
XM_024452819.1:c.3519_3520insA (MSH6)	XP_024308587.1:p.Phe1174IlefsTer3
XM_024452820.1:c.3336_3337insA (MSH6)	XP_024308588.1:p.Phe1113IlefsTer3
XM_024452821.1:c.3222_3223insA (MSH6)	XP_024308589.1:p.Phe1075IlefsTer3
XM_024452822.1:c.2613_2614insA (MSH6)	XP_024308590.1:p.Phe872IlefsTer3
NM_000179.3:c.3519_3520insA (MSH6) MANE Select	NP_000170.1:p.Phe1174IlefsTer3
NM_001281492.2:c.3129_3130insA (MSH6)	NP_001268421.1:p.Phe1044IlefsTer3
NM_001281493.2:c.2613_2614insA (MSH6)	NP_001268422.1:p.Phe872IlefsTer3
NM_001281494.2:c.2613_2614insA (MSH6)	NP_001268423.1:p.Phe872IlefsTer3