Canonical Allele Identifier: CA913188079

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2676807
• ClinVar RCV Id: RCV003461943
• gnomAD v4: 2-47806826-T-TCCATAAATTGCTGACTTTGATTAAGGAATTATAGACTGACTACATTGGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806828_47806878dup , CM000664.2:g.47806828_47806878dup	GRCh38
NC_000002.11:g.48033967_48034017dup , CM000664.1:g.48033967_48034017dup	GRCh37
NC_000002.10:g.47887471_47887521dup	NCBI36
NG_007111.1:g.28682_28732dup , LRG_219:g.28682_28732dup
NG_008397.1:g.103799_103849dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3754_*18dup (MSH6)	ENSP00000406248.2:n.3754_*18dup
ENST00000420813.6:c.3754_*18dup (MSH6)	ENSP00000390382.2:n.3754_*18dup
ENST00000455383.6:c.3754_*18dup (MSH6)	ENSP00000397484.2:n.3754_*18dup
ENST00000700004.2:c.3667_*18dup (MSH6)	ENSP00000514752.2:n.3667_*18dup
ENST00000699999.1:n.4725_4775dup (MSH6)
ENST00000700000.1:c.2485_*18dup (MSH6)	ENSP00000514749.1:n.2485_*18dup
ENST00000700002.1:c.4057_*18dup (MSH6)	ENSP00000514750.1:n.4057_*18dup
ENST00000700003.1:c.1506_1556dup (MSH6)	ENSP00000514751.1:n.1506_1556dup
ENST00000700004.1:c.2824_2874dup (MSH6)	ENSP00000514752.1:n.2824_2874dup
ENST00000700007.1:n.2646_2696dup (MSH6)
ENST00000700008.1:n.2313_2363dup (MSH6)
ENST00000700009.1:n.2715_2765dup (MSH6)
ENST00000700010.1:n.1460_1510dup (MSH6)
ENST00000700011.1:n.3345_3395dup (MSH6)
ENST00000682451.1:n.3871_3921dup (FBXO11)
ENST00000684712.1:n.4133_4183dup (FBXO11)
ENST00000234420.11:c.4051_*18dup (MSH6) MANE Select	ENSP00000234420.5:n.4051_*18dup
ENST00000540021.6:c.3661_*18dup (MSH6)	ENSP00000446475.1:n.3661_*18dup
ENST00000652107.1:c.3754_*18dup (MSH6)	ENSP00000498629.1:n.3754_*18dup
ENST00000673637.1:c.3754_*18dup (MSH6)	ENSP00000501310.1:n.3754_*18dup
ENST00000234420.9:c.4051_*18dup (MSH6)	ENSP00000234420.4:n.4051_*18dup
ENST00000405808.5:c.169+1318_169+1368dup (FBXO11)	ENSP00000385127.1:n.169+1318_169+1368dup
ENST00000434234.5:c.*124+1117_*124+1167dup (FBXO11)	ENSP00000402692.1:n.*124+1117_*124+1167dup
ENST00000445503.5:c.*3398_*3448dup (MSH6)	ENSP00000405294.1:n.*3398_*3448dup
ENST00000465204.5:n.3033_3083dup (FBXO11)
ENST00000538136.1:c.3145_*18dup (MSH6)	ENSP00000438580.1:n.3145_*18dup
ENST00000540021.5:c.3661_*18dup (MSH6)	ENSP00000446475.1:n.3661_*18dup
ENST00000614496.4:c.3145_*18dup (MSH6)	ENSP00000477844.1:n.3145_*18dup
ENST00000622629.4:c.952_*18dup (MSH6)	ENSP00000482078.1:n.952_*18dup
NM_000179.2:c.4051_*18dup , LRG_219t1:c.4051_*18dup (MSH6)	NP_000170.1:n.4051_*18dup
NM_001281492.1:c.3661_*18dup (MSH6)	NP_001268421.1:n.3661_*18dup
NM_001281493.1:c.3145_*18dup (MSH6)	NP_001268422.1:n.3145_*18dup
NM_001281494.1:c.3145_*18dup (MSH6)	NP_001268423.1:n.3145_*18dup
XM_005264271.1:c.3754_*18dup (MSH6)	XP_005264328.1:n.3754_*18dup
XM_011532798.1:c.3868_*18dup (MSH6)	XP_011531100.1:n.3868_*18dup
XM_011532799.1:c.3754_*18dup (MSH6)	XP_011531101.1:n.3754_*18dup
XM_011532800.1:c.3754_*18dup (MSH6)	XP_011531102.1:n.3754_*18dup
XM_024452819.1:c.4144_*18dup (MSH6)	XP_024308587.1:n.4144_*18dup
XM_024452820.1:c.3961_*18dup (MSH6)	XP_024308588.1:n.3961_*18dup
XM_024452821.1:c.3847_*18dup (MSH6)	XP_024308589.1:n.3847_*18dup
XM_024452822.1:c.3238_*18dup (MSH6)	XP_024308590.1:n.3238_*18dup
NM_000179.3:c.4051_*18dup (MSH6) MANE Select	NP_000170.1:n.4051_*18dup
NM_001281492.2:c.3661_*18dup (MSH6)	NP_001268421.1:n.3661_*18dup
NM_001281493.2:c.3145_*18dup (MSH6)	NP_001268422.1:n.3145_*18dup
NM_001281494.2:c.3145_*18dup (MSH6)	NP_001268423.1:n.3145_*18dup