Canonical Allele Identifier: CA10578167

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 230870
• ClinVar RCV Id: RCV000214257 ; RCV000480622 ; RCV000823682 ; RCV001193699 ; RCV003454621
• dbSNP Id: rs876658817
• MyVariant Identifiers: chr2:g.48033671del (hg19) ; chr2:g.47806532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806532del , CM000664.2:g.47806532del	GRCh38
NC_000002.11:g.48033671del , CM000664.1:g.48033671del	GRCh37
NC_000002.10:g.47887175del	NCBI36
NG_007111.1:g.28386del , LRG_219:g.28386del
NG_008397.1:g.104144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3585del (MSH6)	ENSP00000406248.2:p.Pro1196LeufsTer?
ENST00000420813.6:c.3585del (MSH6)	ENSP00000390382.2:p.Pro1196LeufsTer?
ENST00000455383.6:c.3585del (MSH6)	ENSP00000397484.2:p.Pro1196LeufsTer?
ENST00000700004.2:c.3498del (MSH6)	ENSP00000514752.2:p.Pro1167LeufsTer?
ENST00000699999.1:n.4556del (MSH6)
ENST00000700000.1:c.2316del (MSH6)	ENSP00000514749.1:p.Pro773LeufsTer?
ENST00000700002.1:c.3888del (MSH6)	ENSP00000514750.1:p.Pro1297LeufsTer?
ENST00000700003.1:c.1337del (MSH6)	ENSP00000514751.1:n.1337del
ENST00000700004.1:c.2655del (MSH6)	ENSP00000514752.1:p.Pro886LeufsTer?
ENST00000700005.1:n.2733del (MSH6)
ENST00000700006.1:n.5040del (MSH6)
ENST00000700007.1:n.2477del (MSH6)
ENST00000700008.1:n.2144del (MSH6)
ENST00000700009.1:n.2546del (MSH6)
ENST00000700010.1:n.1291del (MSH6)
ENST00000700011.1:n.3176del (MSH6)
ENST00000682451.1:n.4216del (FBXO11)
ENST00000684712.1:n.4478del (FBXO11)
ENST00000234420.11:c.3882del (MSH6) MANE Select	ENSP00000234420.5:p.Pro1295LeufsTer?
ENST00000540021.6:c.3492del (MSH6)	ENSP00000446475.1:p.Pro1165LeufsTer?
ENST00000652107.1:c.3585del (MSH6)	ENSP00000498629.1:p.Pro1196LeufsTer?
ENST00000673637.1:c.3585del (MSH6)	ENSP00000501310.1:p.Pro1196LeufsTer?
ENST00000234420.9:c.3882del (MSH6)	ENSP00000234420.4:p.Pro1295LeufsTer?
ENST00000405808.5:c.169+1663del (FBXO11)	ENSP00000385127.1:n.169+1663del
ENST00000434234.5:c.*124+1462del (FBXO11)	ENSP00000402692.1:n.*124+1462del
ENST00000445503.5:c.*3229del (MSH6)	ENSP00000405294.1:n.*3229del
ENST00000538136.1:c.2976del (MSH6)	ENSP00000438580.1:p.Pro993LeufsTer?
ENST00000540021.5:c.3492del (MSH6)	ENSP00000446475.1:p.Pro1165LeufsTer?
ENST00000614496.4:c.2976del (MSH6)	ENSP00000477844.1:p.Pro993LeufsTer?
ENST00000622629.4:c.783del (MSH6)	ENSP00000482078.1:p.Pro262LeufsTer?
NM_000179.2:c.3882del , LRG_219t1:c.3882del (MSH6)	NP_000170.1:p.Pro1295LeufsTer?
NM_001281492.1:c.3492del (MSH6)	NP_001268421.1:p.Pro1165LeufsTer?
NM_001281493.1:c.2976del (MSH6)	NP_001268422.1:p.Pro993LeufsTer?
NM_001281494.1:c.2976del (MSH6)	NP_001268423.1:p.Pro993LeufsTer?
XM_005264271.1:c.3585del (MSH6)	XP_005264328.1:p.Pro1196LeufsTer?
XM_011532798.1:c.3699del (MSH6)	XP_011531100.1:p.Pro1234LeufsTer?
XM_011532799.1:c.3585del (MSH6)	XP_011531101.1:p.Pro1196LeufsTer?
XM_011532800.1:c.3585del (MSH6)	XP_011531102.1:p.Pro1196LeufsTer?
XM_024452819.1:c.3975del (MSH6)	XP_024308587.1:p.Pro1326LeufsTer?
XM_024452820.1:c.3792del (MSH6)	XP_024308588.1:p.Pro1265LeufsTer?
XM_024452821.1:c.3678del (MSH6)	XP_024308589.1:p.Pro1227LeufsTer?
XM_024452822.1:c.3069del (MSH6)	XP_024308590.1:p.Pro1024LeufsTer?
NM_000179.3:c.3882del (MSH6) MANE Select	NP_000170.1:p.Pro1295LeufsTer?
NM_001281492.2:c.3492del (MSH6)	NP_001268421.1:p.Pro1165LeufsTer?
NM_001281493.2:c.2976del (MSH6)	NP_001268422.1:p.Pro993LeufsTer?
NM_001281494.2:c.2976del (MSH6)	NP_001268423.1:p.Pro993LeufsTer?