Canonical Allele Identifier: CA532705492

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 3017052
• ClinVar RCV Id: RCV003871171
• dbSNP Id: rs1309590896
• gnomAD v2: 2-48033497-G-GGTAT
• gnomAD v4: 2-47806358-G-GGTAT
• MyVariant Identifiers: chr2:g.48033497_48033498insGTAT (hg19) ; chr2:g.47806358_47806359insGTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806361_47806364dup , CM000664.2:g.47806361_47806364dup	GRCh38
NC_000002.11:g.48033500_48033503dup , CM000664.1:g.48033500_48033503dup	GRCh37
NC_000002.10:g.47887004_47887007dup	NCBI36
NG_007111.1:g.28215_28218dup , LRG_219:g.28215_28218dup
NG_008397.1:g.104314_104317dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3504+3_3504+6dup (MSH6)	ENSP00000406248.2:n.3504+3_3504+6dup
ENST00000420813.6:c.3504+3_3504+6dup (MSH6)	ENSP00000390382.2:n.3504+3_3504+6dup
ENST00000455383.6:c.3504+3_3504+6dup (MSH6)	ENSP00000397484.2:n.3504+3_3504+6dup
ENST00000700004.2:c.3417+3_3417+6dup (MSH6)	ENSP00000514752.2:n.3417+3_3417+6dup
ENST00000699999.1:n.4475+3_4475+6dup (MSH6)
ENST00000700000.1:c.2235+3_2235+6dup (MSH6)	ENSP00000514749.1:n.2235+3_2235+6dup
ENST00000700002.1:c.3807+3_3807+6dup (MSH6)	ENSP00000514750.1:n.3807+3_3807+6dup
ENST00000700003.1:c.1256+3_1256+6dup (MSH6)	ENSP00000514751.1:n.1256+3_1256+6dup
ENST00000700004.1:c.2574+3_2574+6dup (MSH6)	ENSP00000514752.1:n.2574+3_2574+6dup
ENST00000700005.1:n.2652+3_2652+6dup (MSH6)
ENST00000700006.1:n.4959+3_4959+6dup (MSH6)
ENST00000700007.1:n.2396+3_2396+6dup (MSH6)
ENST00000700008.1:n.1973_1976dup (MSH6)
ENST00000700009.1:n.2465+3_2465+6dup (MSH6)
ENST00000700010.1:n.1210+3_1210+6dup (MSH6)
ENST00000700011.1:n.3095+3_3095+6dup (MSH6)
ENST00000682451.1:n.4386_4389dup (FBXO11)
ENST00000684712.1:n.4648_4651dup (FBXO11)
ENST00000234420.11:c.3801+3_3801+6dup (MSH6) MANE Select	ENSP00000234420.5:n.3801+3_3801+6dup
ENST00000540021.6:c.3411+3_3411+6dup (MSH6)	ENSP00000446475.1:n.3411+3_3411+6dup
ENST00000652107.1:c.3504+3_3504+6dup (MSH6)	ENSP00000498629.1:n.3504+3_3504+6dup
ENST00000673637.1:c.3504+3_3504+6dup (MSH6)	ENSP00000501310.1:n.3504+3_3504+6dup
ENST00000234420.9:c.3801+3_3801+6dup (MSH6)	ENSP00000234420.4:n.3801+3_3801+6dup
ENST00000405808.5:c.169+1833_169+1836dup (FBXO11)	ENSP00000385127.1:n.169+1833_169+1836dup
ENST00000434234.5:c.*124+1632_*124+1635dup (FBXO11)	ENSP00000402692.1:n.*124+1632_*124+1635dup
ENST00000445503.5:c.*3148+3_*3148+6dup (MSH6)	ENSP00000405294.1:n.*3148+3_*3148+6dup
ENST00000538136.1:c.2895+3_2895+6dup (MSH6)	ENSP00000438580.1:n.2895+3_2895+6dup
ENST00000540021.5:c.3411+3_3411+6dup (MSH6)	ENSP00000446475.1:n.3411+3_3411+6dup
ENST00000614496.4:c.2895+3_2895+6dup (MSH6)	ENSP00000477844.1:n.2895+3_2895+6dup
ENST00000622629.4:c.702+3_702+6dup (MSH6)	ENSP00000482078.1:n.702+3_702+6dup
NM_000179.2:c.3801+3_3801+6dup , LRG_219t1:c.3801+3_3801+6dup (MSH6)	NP_000170.1:n.3801+3_3801+6dup
NM_001281492.1:c.3411+3_3411+6dup (MSH6)	NP_001268421.1:n.3411+3_3411+6dup
NM_001281493.1:c.2895+3_2895+6dup (MSH6)	NP_001268422.1:n.2895+3_2895+6dup
NM_001281494.1:c.2895+3_2895+6dup (MSH6)	NP_001268423.1:n.2895+3_2895+6dup
XM_005264271.1:c.3504+3_3504+6dup (MSH6)	XP_005264328.1:n.3504+3_3504+6dup
XM_011532798.1:c.3618+3_3618+6dup (MSH6)	XP_011531100.1:n.3618+3_3618+6dup
XM_011532799.1:c.3504+3_3504+6dup (MSH6)	XP_011531101.1:n.3504+3_3504+6dup
XM_011532800.1:c.3504+3_3504+6dup (MSH6)	XP_011531102.1:n.3504+3_3504+6dup
XM_024452819.1:c.3804_3807dup (MSH6)	XP_024308587.1:p.Ala1270MetfsTer13
XM_024452820.1:c.3621_3624dup (MSH6)	XP_024308588.1:p.Ala1209MetfsTer13
XM_024452821.1:c.3507_3510dup (MSH6)	XP_024308589.1:p.Ala1171MetfsTer13
XM_024452822.1:c.2898_2901dup (MSH6)	XP_024308590.1:p.Ala968MetfsTer13
NM_000179.3:c.3801+3_3801+6dup (MSH6) MANE Select	NP_000170.1:n.3801+3_3801+6dup
NM_001281492.2:c.3411+3_3411+6dup (MSH6)	NP_001268421.1:n.3411+3_3411+6dup
NM_001281493.2:c.2895+3_2895+6dup (MSH6)	NP_001268422.1:n.2895+3_2895+6dup
NM_001281494.2:c.2895+3_2895+6dup (MSH6)	NP_001268423.1:n.2895+3_2895+6dup