Canonical Allele Identifier: CA532705589

Gene: MSH6 FBXO11

Linked Data

• gnomAD v2: 2-48033948-T-TGTAGATGCTGAAGCTGTCCATAAATTGCTGACTTTGATTAAGGAATTATAGACTGACTACATTGGAA
• gnomAD v3: 2-47806809-T-TGTAGATGCTGAAGCTGTCCATAAATTGCTGACTTTGATTAAGGAATTATAGACTGACTACATTGGAA
• gnomAD v4: 2-47806809-T-TGTAGATGCTGAAGCTGTCCATAAATTGCTGACTTTGATTAAGGAATTATAGACTGACTACATTGGAA
• MyVariant Identifiers: chr2:g.48033948_48033949insGTAGATGCTGAAGCTGTCCATAAATTGCTGACTTTGATTAAGGAATTATAGACTGACTACATTGGAA (hg19) ; chr2:g.47806809_47806810insGTAGATGCTGAAGCTGTCCATAAATTGCTGACTTTGATTAAGGAATTATAGACTGACTACATTGGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806811_47806877dup , CM000664.2:g.47806811_47806877dup	GRCh38
NC_000002.11:g.48033950_48034016dup , CM000664.1:g.48033950_48034016dup	GRCh37
NC_000002.10:g.47887454_47887520dup	NCBI36
NG_007111.1:g.28665_28731dup , LRG_219:g.28665_28731dup
NG_008397.1:g.103800_103866dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3737_*17dup (MSH6)	ENSP00000406248.2:n.3737_*17dup
ENST00000420813.6:c.3737_*17dup (MSH6)	ENSP00000390382.2:n.3737_*17dup
ENST00000455383.6:c.3737_*17dup (MSH6)	ENSP00000397484.2:n.3737_*17dup
ENST00000700004.2:c.3650_*17dup (MSH6)	ENSP00000514752.2:n.3650_*17dup
ENST00000699999.1:n.4708_4774dup (MSH6)
ENST00000700000.1:c.2468_*17dup (MSH6)	ENSP00000514749.1:n.2468_*17dup
ENST00000700002.1:c.4040_*17dup (MSH6)	ENSP00000514750.1:n.4040_*17dup
ENST00000700003.1:c.1489_1555dup (MSH6)	ENSP00000514751.1:n.1489_1555dup
ENST00000700004.1:c.2807_2873dup (MSH6)	ENSP00000514752.1:n.2807_2873dup
ENST00000700007.1:n.2629_2695dup (MSH6)
ENST00000700008.1:n.2296_2362dup (MSH6)
ENST00000700009.1:n.2698_2764dup (MSH6)
ENST00000700010.1:n.1443_1509dup (MSH6)
ENST00000700011.1:n.3328_3394dup (MSH6)
ENST00000682451.1:n.3872_3938dup (FBXO11)
ENST00000684712.1:n.4134_4200dup (FBXO11)
ENST00000234420.11:c.4034_*17dup (MSH6) MANE Select	ENSP00000234420.5:n.4034_*17dup
ENST00000540021.6:c.3644_*17dup (MSH6)	ENSP00000446475.1:n.3644_*17dup
ENST00000652107.1:c.3737_*17dup (MSH6)	ENSP00000498629.1:n.3737_*17dup
ENST00000673637.1:c.3737_*17dup (MSH6)	ENSP00000501310.1:n.3737_*17dup
ENST00000234420.9:c.4034_*17dup (MSH6)	ENSP00000234420.4:n.4034_*17dup
ENST00000405808.5:c.169+1319_169+1385dup (FBXO11)	ENSP00000385127.1:n.169+1319_169+1385dup
ENST00000434234.5:c.*124+1118_*124+1184dup (FBXO11)	ENSP00000402692.1:n.*124+1118_*124+1184dup
ENST00000445503.5:c.*3381_*3447dup (MSH6)	ENSP00000405294.1:n.*3381_*3447dup
ENST00000465204.5:n.3034_3100dup (FBXO11)
ENST00000538136.1:c.3128_*17dup (MSH6)	ENSP00000438580.1:n.3128_*17dup
ENST00000540021.5:c.3644_*17dup (MSH6)	ENSP00000446475.1:n.3644_*17dup
ENST00000614496.4:c.3128_*17dup (MSH6)	ENSP00000477844.1:n.3128_*17dup
ENST00000622629.4:c.935_*17dup (MSH6)	ENSP00000482078.1:n.935_*17dup
NM_000179.2:c.4034_*17dup , LRG_219t1:c.4034_*17dup (MSH6)	NP_000170.1:n.4034_*17dup
NM_001281492.1:c.3644_*17dup (MSH6)	NP_001268421.1:n.3644_*17dup
NM_001281493.1:c.3128_*17dup (MSH6)	NP_001268422.1:n.3128_*17dup
NM_001281494.1:c.3128_*17dup (MSH6)	NP_001268423.1:n.3128_*17dup
XM_005264271.1:c.3737_*17dup (MSH6)	XP_005264328.1:n.3737_*17dup
XM_011532798.1:c.3851_*17dup (MSH6)	XP_011531100.1:n.3851_*17dup
XM_011532799.1:c.3737_*17dup (MSH6)	XP_011531101.1:n.3737_*17dup
XM_011532800.1:c.3737_*17dup (MSH6)	XP_011531102.1:n.3737_*17dup
XM_024452819.1:c.4127_*17dup (MSH6)	XP_024308587.1:n.4127_*17dup
XM_024452820.1:c.3944_*17dup (MSH6)	XP_024308588.1:n.3944_*17dup
XM_024452821.1:c.3830_*17dup (MSH6)	XP_024308589.1:n.3830_*17dup
XM_024452822.1:c.3221_*17dup (MSH6)	XP_024308590.1:n.3221_*17dup
NM_000179.3:c.4034_*17dup (MSH6) MANE Select	NP_000170.1:n.4034_*17dup
NM_001281492.2:c.3644_*17dup (MSH6)	NP_001268421.1:n.3644_*17dup
NM_001281493.2:c.3128_*17dup (MSH6)	NP_001268422.1:n.3128_*17dup
NM_001281494.2:c.3128_*17dup (MSH6)	NP_001268423.1:n.3128_*17dup