Canonical Allele Identifier: CA2695200517

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673706
• ClinVar RCV Id: RCV003450343

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806586dup , CM000664.2:g.47806586dup	GRCh38
NC_000002.11:g.48033725dup , CM000664.1:g.48033725dup	GRCh37
NC_000002.10:g.47887229dup	NCBI36
NG_007111.1:g.28440dup , LRG_219:g.28440dup
NG_008397.1:g.104091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3639dup (MSH6)	ENSP00000406248.2:p.Ile1214TyrfsTer6
ENST00000420813.6:c.3639dup (MSH6)	ENSP00000390382.2:p.Ile1214TyrfsTer6
ENST00000455383.6:c.3639dup (MSH6)	ENSP00000397484.2:p.Ile1214TyrfsTer6
ENST00000700004.2:c.3552dup (MSH6)	ENSP00000514752.2:p.Ile1185TyrfsTer6
ENST00000699999.1:n.4610dup (MSH6)
ENST00000700000.1:c.2370dup (MSH6)	ENSP00000514749.1:p.Ile791TyrfsTer6
ENST00000700002.1:c.3942dup (MSH6)	ENSP00000514750.1:p.Ile1315TyrfsTer6
ENST00000700003.1:c.1391dup (MSH6)	ENSP00000514751.1:n.1391dup
ENST00000700004.1:c.2709dup (MSH6)	ENSP00000514752.1:p.Ile904TyrfsTer6
ENST00000700005.1:n.2787dup (MSH6)
ENST00000700006.1:n.5094dup (MSH6)
ENST00000700007.1:n.2531dup (MSH6)
ENST00000700008.1:n.2198dup (MSH6)
ENST00000700009.1:n.2600dup (MSH6)
ENST00000700010.1:n.1345dup (MSH6)
ENST00000700011.1:n.3230dup (MSH6)
ENST00000682451.1:n.4163dup (FBXO11)
ENST00000684712.1:n.4425dup (FBXO11)
ENST00000234420.11:c.3936dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile1313TyrfsTer6
ENST00000540021.6:c.3546dup (MSH6)	ENSP00000446475.1:p.Ile1183TyrfsTer6
ENST00000652107.1:c.3639dup (MSH6)	ENSP00000498629.1:p.Ile1214TyrfsTer6
ENST00000673637.1:c.3639dup (MSH6)	ENSP00000501310.1:p.Ile1214TyrfsTer6
ENST00000234420.9:c.3936dup (MSH6)	ENSP00000234420.4:p.Ile1313TyrfsTer6
ENST00000405808.5:c.169+1610dup (FBXO11)	ENSP00000385127.1:n.169+1610dup
ENST00000434234.5:c.*124+1409dup (FBXO11)	ENSP00000402692.1:n.*124+1409dup
ENST00000445503.5:c.*3283dup (MSH6)	ENSP00000405294.1:n.*3283dup
ENST00000538136.1:c.3030dup (MSH6)	ENSP00000438580.1:p.Ile1011TyrfsTer6
ENST00000540021.5:c.3546dup (MSH6)	ENSP00000446475.1:p.Ile1183TyrfsTer6
ENST00000614496.4:c.3030dup (MSH6)	ENSP00000477844.1:p.Ile1011TyrfsTer6
ENST00000622629.4:c.837dup (MSH6)	ENSP00000482078.1:p.Ile280TyrfsTer6
NM_000179.2:c.3936dup , LRG_219t1:c.3936dup (MSH6)	NP_000170.1:p.Ile1313TyrfsTer6
NM_001281492.1:c.3546dup (MSH6)	NP_001268421.1:p.Ile1183TyrfsTer6
NM_001281493.1:c.3030dup (MSH6)	NP_001268422.1:p.Ile1011TyrfsTer6
NM_001281494.1:c.3030dup (MSH6)	NP_001268423.1:p.Ile1011TyrfsTer6
XM_005264271.1:c.3639dup (MSH6)	XP_005264328.1:p.Ile1214TyrfsTer6
XM_011532798.1:c.3753dup (MSH6)	XP_011531100.1:p.Ile1252TyrfsTer6
XM_011532799.1:c.3639dup (MSH6)	XP_011531101.1:p.Ile1214TyrfsTer6
XM_011532800.1:c.3639dup (MSH6)	XP_011531102.1:p.Ile1214TyrfsTer6
XM_024452819.1:c.4029dup (MSH6)	XP_024308587.1:p.Ile1344TyrfsTer6
XM_024452820.1:c.3846dup (MSH6)	XP_024308588.1:p.Ile1283TyrfsTer6
XM_024452821.1:c.3732dup (MSH6)	XP_024308589.1:p.Ile1245TyrfsTer6
XM_024452822.1:c.3123dup (MSH6)	XP_024308590.1:p.Ile1042TyrfsTer6
NM_000179.3:c.3936dup (MSH6) MANE Select	NP_000170.1:p.Ile1313TyrfsTer6
NM_001281492.2:c.3546dup (MSH6)	NP_001268421.1:p.Ile1183TyrfsTer6
NM_001281493.2:c.3030dup (MSH6)	NP_001268422.1:p.Ile1011TyrfsTer6
NM_001281494.2:c.3030dup (MSH6)	NP_001268423.1:p.Ile1011TyrfsTer6