Canonical Allele Identifier: CA891842826

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 569739
• ClinVar RCV Id: RCV000690445
• dbSNP Id: rs1558659699
• MyVariant Identifiers: chr2:g.48026028_48026029del (hg19) ; chr2:g.47798889_47798890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798889_47798890del , CM000664.2:g.47798889_47798890del	GRCh38
NC_000002.11:g.48026028_48026029del , CM000664.1:g.48026028_48026029del	GRCh37
NC_000002.10:g.47879532_47879533del	NCBI36
NG_007111.1:g.20743_20744del , LRG_219:g.20743_20744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.609_610del (MSH6)	ENSP00000406248.2:p.Arg203SerfsTer9
ENST00000420813.6:c.609_610del (MSH6)	ENSP00000390382.2:p.Arg203SerfsTer9
ENST00000455383.6:c.609_610del (MSH6)	ENSP00000397484.2:p.Arg203SerfsTer9
ENST00000700004.2:c.906_907del (MSH6)	ENSP00000514752.2:p.Arg302SerfsTer9
ENST00000699999.1:n.990_991del (MSH6)
ENST00000700000.1:c.906_907del (MSH6)	ENSP00000514749.1:p.Arg302SerfsTer9
ENST00000700002.1:c.912_913del (MSH6)	ENSP00000514750.1:p.Arg304SerfsTer9
ENST00000700003.1:c.627+2826_627+2827del (MSH6)	ENSP00000514751.1:n.627+2826_627+2827del
ENST00000700004.1:c.63_64del (MSH6)	ENSP00000514752.1:p.Arg21SerfsTer9
ENST00000234420.11:c.906_907del (MSH6) MANE Select	ENSP00000234420.5:p.Arg302SerfsTer9
ENST00000540021.6:c.516_517del (MSH6)	ENSP00000446475.1:p.Arg172SerfsTer9
ENST00000652107.1:c.609_610del (MSH6)	ENSP00000498629.1:p.Arg203SerfsTer9
ENST00000673637.1:c.609_610del (MSH6)	ENSP00000501310.1:p.Arg203SerfsTer9
ENST00000234420.9:c.906_907del (MSH6)	ENSP00000234420.4:p.Arg302SerfsTer9
ENST00000405808.5:c.169+9305_169+9306del (FBXO11)	ENSP00000385127.1:n.169+9305_169+9306del
ENST00000434234.5:c.*124+9104_*124+9105del (FBXO11)	ENSP00000402692.1:n.*124+9104_*124+9105del
ENST00000445503.5:c.*253_*254del (MSH6)	ENSP00000405294.1:n.*253_*254del
ENST00000456246.1:c.*394_*395del (MSH6)	ENSP00000410570.1:n.*394_*395del
ENST00000538136.1:c.-1_1del (MSH6)
ENST00000540021.5:c.516_517del (MSH6)	ENSP00000446475.1:p.Arg172SerfsTer9
ENST00000614496.4:c.-1_1del (MSH6)
ENST00000616033.4:c.903_904del (MSH6)	ENSP00000480261.1:p.Arg301SerfsTer9
ENST00000622629.4:c.-2191_-2190del (MSH6)	ENSP00000482078.1:n.-2191_-2190del
NM_000179.2:c.906_907del , LRG_219t1:c.906_907del (MSH6)	NP_000170.1:p.Arg302SerfsTer9
NM_001281492.1:c.516_517del (MSH6)	NP_001268421.1:p.Arg172SerfsTer9
NM_001281493.1:c.-1_1del (MSH6)
NM_001281494.1:c.-1_1del (MSH6)
XM_005264271.1:c.609_610del (MSH6)	XP_005264328.1:p.Arg203SerfsTer9
XM_011532798.1:c.723_724del (MSH6)	XP_011531100.1:p.Arg241SerfsTer9
XM_011532799.1:c.609_610del (MSH6)	XP_011531101.1:p.Arg203SerfsTer9
XM_011532800.1:c.609_610del (MSH6)	XP_011531102.1:p.Arg203SerfsTer9
XM_024452819.1:c.906_907del (MSH6)	XP_024308587.1:p.Arg302SerfsTer9
XM_024452820.1:c.723_724del (MSH6)	XP_024308588.1:p.Arg241SerfsTer9
XM_024452821.1:c.609_610del (MSH6)	XP_024308589.1:p.Arg203SerfsTer9
XM_024452822.1:c.-1_1del (MSH6)
NM_000179.3:c.906_907del (MSH6) MANE Select	NP_000170.1:p.Arg302SerfsTer9
NM_001281492.2:c.516_517del (MSH6)	NP_001268421.1:p.Arg172SerfsTer9
NM_001281493.2:c.-1_1del (MSH6)
NM_001281494.2:c.-1_1del (MSH6)