Canonical Allele Identifier: CA2573134789

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1383189
• ClinVar RCV Id: RCV001892415
• dbSNP Id: rs2104556348

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806512_47806515dup , CM000664.2:g.47806512_47806515dup	GRCh38
NC_000002.11:g.48033651_48033654dup , CM000664.1:g.48033651_48033654dup	GRCh37
NC_000002.10:g.47887155_47887158dup	NCBI36
NG_007111.1:g.28366_28369dup , LRG_219:g.28366_28369dup
NG_008397.1:g.104163_104166dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3565_3568dup (MSH6)	ENSP00000406248.2:p.Phe1190Ter
ENST00000420813.6:c.3565_3568dup (MSH6)	ENSP00000390382.2:p.Phe1190Ter
ENST00000455383.6:c.3565_3568dup (MSH6)	ENSP00000397484.2:p.Phe1190Ter
ENST00000700004.2:c.3478_3481dup (MSH6)	ENSP00000514752.2:p.Phe1161Ter
ENST00000699999.1:n.4536_4539dup (MSH6)
ENST00000700000.1:c.2296_2299dup (MSH6)	ENSP00000514749.1:p.Phe767Ter
ENST00000700002.1:c.3868_3871dup (MSH6)	ENSP00000514750.1:p.Phe1291Ter
ENST00000700003.1:c.1317_1320dup (MSH6)	ENSP00000514751.1:n.1317_1320dup
ENST00000700004.1:c.2635_2638dup (MSH6)	ENSP00000514752.1:p.Phe880Ter
ENST00000700005.1:n.2713_2716dup (MSH6)
ENST00000700006.1:n.5020_5023dup (MSH6)
ENST00000700007.1:n.2457_2460dup (MSH6)
ENST00000700008.1:n.2124_2127dup (MSH6)
ENST00000700009.1:n.2526_2529dup (MSH6)
ENST00000700010.1:n.1271_1274dup (MSH6)
ENST00000700011.1:n.3156_3159dup (MSH6)
ENST00000682451.1:n.4235_4238dup (FBXO11)
ENST00000684712.1:n.4497_4500dup (FBXO11)
ENST00000234420.11:c.3862_3865dup (MSH6) MANE Select	ENSP00000234420.5:p.Phe1289Ter
ENST00000540021.6:c.3472_3475dup (MSH6)	ENSP00000446475.1:p.Phe1159Ter
ENST00000652107.1:c.3565_3568dup (MSH6)	ENSP00000498629.1:p.Phe1190Ter
ENST00000673637.1:c.3565_3568dup (MSH6)	ENSP00000501310.1:p.Phe1190Ter
ENST00000234420.9:c.3862_3865dup (MSH6)	ENSP00000234420.4:p.Phe1289Ter
ENST00000405808.5:c.169+1682_169+1685dup (FBXO11)	ENSP00000385127.1:n.169+1682_169+1685dup
ENST00000434234.5:c.*124+1481_*124+1484dup (FBXO11)	ENSP00000402692.1:n.*124+1481_*124+1484dup
ENST00000445503.5:c.*3209_*3212dup (MSH6)	ENSP00000405294.1:n.*3209_*3212dup
ENST00000538136.1:c.2956_2959dup (MSH6)	ENSP00000438580.1:p.Phe987Ter
ENST00000540021.5:c.3472_3475dup (MSH6)	ENSP00000446475.1:p.Phe1159Ter
ENST00000614496.4:c.2956_2959dup (MSH6)	ENSP00000477844.1:p.Phe987Ter
ENST00000622629.4:c.763_766dup (MSH6)	ENSP00000482078.1:p.Phe256Ter
NM_000179.2:c.3862_3865dup , LRG_219t1:c.3862_3865dup (MSH6)	NP_000170.1:p.Phe1289Ter
NM_001281492.1:c.3472_3475dup (MSH6)	NP_001268421.1:p.Phe1159Ter
NM_001281493.1:c.2956_2959dup (MSH6)	NP_001268422.1:p.Phe987Ter
NM_001281494.1:c.2956_2959dup (MSH6)	NP_001268423.1:p.Phe987Ter
XM_005264271.1:c.3565_3568dup (MSH6)	XP_005264328.1:p.Phe1190Ter
XM_011532798.1:c.3679_3682dup (MSH6)	XP_011531100.1:p.Phe1228Ter
XM_011532799.1:c.3565_3568dup (MSH6)	XP_011531101.1:p.Phe1190Ter
XM_011532800.1:c.3565_3568dup (MSH6)	XP_011531102.1:p.Phe1190Ter
XM_024452819.1:c.3955_3958dup (MSH6)	XP_024308587.1:p.Phe1320Ter
XM_024452820.1:c.3772_3775dup (MSH6)	XP_024308588.1:p.Phe1259Ter
XM_024452821.1:c.3658_3661dup (MSH6)	XP_024308589.1:p.Phe1221Ter
XM_024452822.1:c.3049_3052dup (MSH6)	XP_024308590.1:p.Phe1018Ter
NM_000179.3:c.3862_3865dup (MSH6) MANE Select	NP_000170.1:p.Phe1289Ter
NM_001281492.2:c.3472_3475dup (MSH6)	NP_001268421.1:p.Phe1159Ter
NM_001281493.2:c.2956_2959dup (MSH6)	NP_001268422.1:p.Phe987Ter
NM_001281494.2:c.2956_2959dup (MSH6)	NP_001268423.1:p.Phe987Ter