Canonical Allele Identifier: CA008050

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 188393
• ClinVar RCV Id: RCV000168455 ; RCV000491275 ; RCV001255565
• dbSNP Id: rs786204252
• gnomAD v2: 2-48026228-CTT-C
• gnomAD v4: 2-47799089-CTT-C
• MyVariant Identifiers: chr2:g.48026230_48026231del (hg19) ; chr2:g.48026229_48026230del (hg19) ; chr2:g.47799091_47799092del (hg38) ; chr2:g.47799090_47799091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799091_47799092del , CM000664.2:g.47799091_47799092del	GRCh38
NC_000002.11:g.48026230_48026231del , CM000664.1:g.48026230_48026231del	GRCh37
NC_000002.10:g.47879734_47879735del	NCBI36
NG_007111.1:g.20945_20946del , LRG_219:g.20945_20946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.811_812del (MSH6)	ENSP00000406248.2:p.Leu271ArgfsTer4
ENST00000420813.6:c.811_812del (MSH6)	ENSP00000390382.2:p.Leu271ArgfsTer4
ENST00000455383.6:c.811_812del (MSH6)	ENSP00000397484.2:p.Leu271ArgfsTer4
ENST00000700004.2:c.1108_1109del (MSH6)	ENSP00000514752.2:p.Leu370ArgfsTer4
ENST00000699999.1:n.1192_1193del (MSH6)
ENST00000700000.1:c.1108_1109del (MSH6)	ENSP00000514749.1:p.Leu370ArgfsTer4
ENST00000700002.1:c.1114_1115del (MSH6)	ENSP00000514750.1:p.Leu372ArgfsTer4
ENST00000700003.1:c.627+3028_627+3029del (MSH6)	ENSP00000514751.1:n.627+3028_627+3029del
ENST00000700004.1:c.265_266del (MSH6)	ENSP00000514752.1:p.Leu89ArgfsTer4
ENST00000234420.11:c.1108_1109del (MSH6) MANE Select	ENSP00000234420.5:p.Leu370ArgfsTer4
ENST00000540021.6:c.718_719del (MSH6)	ENSP00000446475.1:p.Leu240ArgfsTer4
ENST00000652107.1:c.811_812del (MSH6)	ENSP00000498629.1:p.Leu271ArgfsTer4
ENST00000673637.1:c.811_812del (MSH6)	ENSP00000501310.1:p.Leu271ArgfsTer4
ENST00000234420.9:c.1108_1109del (MSH6)	ENSP00000234420.4:p.Leu370ArgfsTer4
ENST00000405808.5:c.169+9104_169+9105del (FBXO11)	ENSP00000385127.1:n.169+9104_169+9105del
ENST00000434234.5:c.*124+8903_*124+8904del (FBXO11)	ENSP00000402692.1:n.*124+8903_*124+8904del
ENST00000445503.5:c.*455_*456del (MSH6)	ENSP00000405294.1:n.*455_*456del
ENST00000538136.1:c.202_203del (MSH6)	ENSP00000438580.1:p.Leu68ArgfsTer4
ENST00000540021.5:c.718_719del (MSH6)	ENSP00000446475.1:p.Leu240ArgfsTer4
ENST00000614496.4:c.202_203del (MSH6)	ENSP00000477844.1:p.Leu68ArgfsTer4
ENST00000616033.4:c.1105_1106del (MSH6)	ENSP00000480261.1:p.Leu369ArgfsTer4
ENST00000622629.4:c.-1989_-1988del (MSH6)	ENSP00000482078.1:n.-1989_-1988del
NM_000179.2:c.1108_1109del , LRG_219t1:c.1108_1109del (MSH6)	NP_000170.1:p.Leu370ArgfsTer4
NM_001281492.1:c.718_719del (MSH6)	NP_001268421.1:p.Leu240ArgfsTer4
NM_001281493.1:c.202_203del (MSH6)	NP_001268422.1:p.Leu68ArgfsTer4
NM_001281494.1:c.202_203del (MSH6)	NP_001268423.1:p.Leu68ArgfsTer4
XM_005264271.1:c.811_812del (MSH6)	XP_005264328.1:p.Leu271ArgfsTer4
XM_011532798.1:c.925_926del (MSH6)	XP_011531100.1:p.Leu309ArgfsTer4
XM_011532799.1:c.811_812del (MSH6)	XP_011531101.1:p.Leu271ArgfsTer4
XM_011532800.1:c.811_812del (MSH6)	XP_011531102.1:p.Leu271ArgfsTer4
XM_024452819.1:c.1108_1109del (MSH6)	XP_024308587.1:p.Leu370ArgfsTer4
XM_024452820.1:c.925_926del (MSH6)	XP_024308588.1:p.Leu309ArgfsTer4
XM_024452821.1:c.811_812del (MSH6)	XP_024308589.1:p.Leu271ArgfsTer4
XM_024452822.1:c.202_203del (MSH6)	XP_024308590.1:p.Leu68ArgfsTer4
NM_000179.3:c.1108_1109del (MSH6) MANE Select	NP_000170.1:p.Leu370ArgfsTer4
NM_001281492.2:c.718_719del (MSH6)	NP_001268421.1:p.Leu240ArgfsTer4
NM_001281493.2:c.202_203del (MSH6)	NP_001268422.1:p.Leu68ArgfsTer4
NM_001281494.2:c.202_203del (MSH6)	NP_001268423.1:p.Leu68ArgfsTer4