Canonical Allele Identifier: CA769485313

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1754645
• ClinVar RCV Id: RCV002366807 ; RCV003594231 ; RCV003454181
• dbSNP Id: rs1223983117
• gnomAD v3: 2-47798645-A-AAGATAATG
• gnomAD v4: 2-47798645-A-AAGATAATG
• MyVariant Identifiers: chr2:g.48025784_48025785insAGATAATG (hg19) ; chr2:g.47798645_47798646insAGATAATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798647_47798654dup , CM000664.2:g.47798647_47798654dup	GRCh38
NC_000002.11:g.48025786_48025793dup , CM000664.1:g.48025786_48025793dup	GRCh37
NC_000002.10:g.47879290_47879297dup	NCBI36
NG_007111.1:g.20501_20508dup , LRG_219:g.20501_20508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.367_374dup (MSH6)	ENSP00000406248.2:p.Glu127MetfsTer23
ENST00000420813.6:c.367_374dup (MSH6)	ENSP00000390382.2:p.Glu127MetfsTer23
ENST00000455383.6:c.367_374dup (MSH6)	ENSP00000397484.2:p.Glu127MetfsTer23
ENST00000700004.2:c.664_671dup (MSH6)	ENSP00000514752.2:p.Glu226MetfsTer23
ENST00000699999.1:n.748_755dup (MSH6)
ENST00000700000.1:c.664_671dup (MSH6)	ENSP00000514749.1:p.Glu226MetfsTer23
ENST00000700002.1:c.670_677dup (MSH6)	ENSP00000514750.1:p.Glu228MetfsTer23
ENST00000700003.1:c.627+2584_627+2591dup (MSH6)	ENSP00000514751.1:n.627+2584_627+2591dup
ENST00000234420.11:c.664_671dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu226MetfsTer23
ENST00000540021.6:c.274_281dup (MSH6)	ENSP00000446475.1:p.Glu96MetfsTer23
ENST00000652107.1:c.367_374dup (MSH6)	ENSP00000498629.1:p.Glu127MetfsTer23
ENST00000673637.1:c.367_374dup (MSH6)	ENSP00000501310.1:p.Glu127MetfsTer23
ENST00000673922.1:n.386_393dup (MSH6)
ENST00000234420.9:c.664_671dup (MSH6)	ENSP00000234420.4:p.Glu226MetfsTer23
ENST00000405808.5:c.170-9213_170-9206dup (FBXO11)	ENSP00000385127.1:n.170-9213_170-9206dup
ENST00000411819.1:c.367_374dup (MSH6)	ENSP00000406248.1:p.Glu127MetfsTer23
ENST00000434234.5:c.*125-9213_*125-9206dup (FBXO11)	ENSP00000402692.1:n.*125-9213_*125-9206dup
ENST00000445503.5:c.*11_*18dup (MSH6)	ENSP00000405294.1:n.*11_*18dup
ENST00000456246.1:c.*152_*159dup (MSH6)	ENSP00000410570.1:n.*152_*159dup
ENST00000538136.1:c.-243_-236dup (MSH6)	ENSP00000438580.1:n.-243_-236dup
ENST00000540021.5:c.274_281dup (MSH6)	ENSP00000446475.1:p.Glu96MetfsTer23
ENST00000614496.4:c.-243_-236dup (MSH6)	ENSP00000477844.1:n.-243_-236dup
ENST00000616033.4:c.661_668dup (MSH6)	ENSP00000480261.1:p.Glu225MetfsTer23
ENST00000622629.4:c.-2433_-2426dup (MSH6)	ENSP00000482078.1:n.-2433_-2426dup
NM_000179.2:c.664_671dup , LRG_219t1:c.664_671dup (MSH6)	NP_000170.1:p.Glu226MetfsTer23
NM_001281492.1:c.274_281dup (MSH6)	NP_001268421.1:p.Glu96MetfsTer23
NM_001281493.1:c.-243_-236dup (MSH6)	NP_001268422.1:n.-243_-236dup
NM_001281494.1:c.-243_-236dup (MSH6)	NP_001268423.1:n.-243_-236dup
XM_005264271.1:c.367_374dup (MSH6)	XP_005264328.1:p.Glu127MetfsTer23
XM_011532798.1:c.481_488dup (MSH6)	XP_011531100.1:p.Glu165MetfsTer23
XM_011532799.1:c.367_374dup (MSH6)	XP_011531101.1:p.Glu127MetfsTer23
XM_011532800.1:c.367_374dup (MSH6)	XP_011531102.1:p.Glu127MetfsTer23
XM_024452819.1:c.664_671dup (MSH6)	XP_024308587.1:p.Glu226MetfsTer23
XM_024452820.1:c.481_488dup (MSH6)	XP_024308588.1:p.Glu165MetfsTer23
XM_024452821.1:c.367_374dup (MSH6)	XP_024308589.1:p.Glu127MetfsTer23
XM_024452822.1:c.-243_-236dup (MSH6)	XP_024308590.1:n.-243_-236dup
NM_000179.3:c.664_671dup (MSH6) MANE Select	NP_000170.1:p.Glu226MetfsTer23
NM_001281492.2:c.274_281dup (MSH6)	NP_001268421.1:p.Glu96MetfsTer23
NM_001281493.2:c.-243_-236dup (MSH6)	NP_001268422.1:n.-243_-236dup
NM_001281494.2:c.-243_-236dup (MSH6)	NP_001268423.1:n.-243_-236dup