Canonical Allele Identifier: CA016554

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89572
• ClinVar RCV Id: RCV000129540 ; RCV000235182 ; RCV000411287 ; RCV000524216 ; RCV000985852 ; RCV000761154 ; RCV001798258 ; RCV004537285 ; RCV003460705
• dbSNP Id: rs267608079
• MyVariant Identifiers: chr2:g.48025988_48025989delinsAA (hg19) ; chr2:g.47798849_47798850delinsAA (hg38)
• PubMed: PMID:16010685 ; PMID:18269114 ; PMID:20028993 ; PMID:23621914 ; PMID:26635394

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798849_47798850delinsAA , CM000664.2:g.47798849_47798850delinsAA	GRCh38
NC_000002.11:g.48025988_48025989delinsAA , CM000664.1:g.48025988_48025989delinsAA	GRCh37
NC_000002.10:g.47879492_47879493delinsAA	NCBI36
NG_007111.1:g.20703_20704delinsAA , LRG_219:g.20703_20704delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.569_570delinsAA (MSH6)	ENSP00000406248.2:p.Gly190Glu
ENST00000420813.6:c.569_570delinsAA (MSH6)	ENSP00000390382.2:p.Gly190Glu
ENST00000455383.6:c.569_570delinsAA (MSH6)	ENSP00000397484.2:p.Gly190Glu
ENST00000700004.2:c.866_867delinsAA (MSH6)	ENSP00000514752.2:p.Gly289Glu
ENST00000699999.1:n.950_951delinsAA (MSH6)
ENST00000700000.1:c.866_867delinsAA (MSH6)	ENSP00000514749.1:p.Gly289Glu
ENST00000700002.1:c.872_873delinsAA (MSH6)	ENSP00000514750.1:p.Gly291Glu
ENST00000700003.1:c.627+2786_627+2787delinsAA (MSH6)	ENSP00000514751.1:n.627+2786_627+2787delinsAA
ENST00000700004.1:c.23_24delinsAA (MSH6)	ENSP00000514752.1:p.Gly8Glu
ENST00000234420.11:c.866_867delinsAA (MSH6) MANE Select	ENSP00000234420.5:p.Gly289Glu
ENST00000540021.6:c.476_477delinsAA (MSH6)	ENSP00000446475.1:p.Gly159Glu
ENST00000652107.1:c.569_570delinsAA (MSH6)	ENSP00000498629.1:p.Gly190Glu
ENST00000673637.1:c.569_570delinsAA (MSH6)	ENSP00000501310.1:p.Gly190Glu
ENST00000234420.9:c.866_867delinsAA (MSH6)	ENSP00000234420.4:p.Gly289Glu
ENST00000405808.5:c.169+9345_169+9346delinsTT (FBXO11)	ENSP00000385127.1:n.169+9345_169+9346delinsTT
ENST00000434234.5:c.*124+9144_*124+9145delinsTT (FBXO11)	ENSP00000402692.1:n.*124+9144_*124+9145delinsTT
ENST00000445503.5:c.*213_*214delinsAA (MSH6)	ENSP00000405294.1:n.*213_*214delinsAA
ENST00000456246.1:c.*354_*355delinsAA (MSH6)	ENSP00000410570.1:n.*354_*355delinsAA
ENST00000538136.1:c.-41_-40delinsAA (MSH6)	ENSP00000438580.1:n.-41_-40delinsAA
ENST00000540021.5:c.476_477delinsAA (MSH6)	ENSP00000446475.1:p.Gly159Glu
ENST00000614496.4:c.-41_-40delinsAA (MSH6)	ENSP00000477844.1:n.-41_-40delinsAA
ENST00000616033.4:c.863_864delinsAA (MSH6)	ENSP00000480261.1:p.Gly288Glu
ENST00000622629.4:c.-2231_-2230delinsAA (MSH6)	ENSP00000482078.1:n.-2231_-2230delinsAA
NM_000179.2:c.866_867delinsAA , LRG_219t1:c.866_867delinsAA (MSH6)	NP_000170.1:p.Gly289Glu
NM_001281492.1:c.476_477delinsAA (MSH6)	NP_001268421.1:p.Gly159Glu
NM_001281493.1:c.-41_-40delinsAA (MSH6)	NP_001268422.1:n.-41_-40delinsAA
NM_001281494.1:c.-41_-40delinsAA (MSH6)	NP_001268423.1:n.-41_-40delinsAA
XM_005264271.1:c.569_570delinsAA (MSH6)	XP_005264328.1:p.Gly190Glu
XM_011532798.1:c.683_684delinsAA (MSH6)	XP_011531100.1:p.Gly228Glu
XM_011532799.1:c.569_570delinsAA (MSH6)	XP_011531101.1:p.Gly190Glu
XM_011532800.1:c.569_570delinsAA (MSH6)	XP_011531102.1:p.Gly190Glu
XM_024452819.1:c.866_867delinsAA (MSH6)	XP_024308587.1:p.Gly289Glu
XM_024452820.1:c.683_684delinsAA (MSH6)	XP_024308588.1:p.Gly228Glu
XM_024452821.1:c.569_570delinsAA (MSH6)	XP_024308589.1:p.Gly190Glu
XM_024452822.1:c.-41_-40delinsAA (MSH6)	XP_024308590.1:n.-41_-40delinsAA
NM_000179.3:c.866_867delinsAA (MSH6) MANE Select	NP_000170.1:p.Gly289Glu
NM_001281492.2:c.476_477delinsAA (MSH6)	NP_001268421.1:p.Gly159Glu
NM_001281493.2:c.-41_-40delinsAA (MSH6)	NP_001268422.1:n.-41_-40delinsAA
NM_001281494.2:c.-41_-40delinsAA (MSH6)	NP_001268423.1:n.-41_-40delinsAA