Canonical Allele Identifier: CA913187936

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 920593
• ClinVar RCV Id: RCV001179442 ; RCV001875935
• dbSNP Id: rs1669253958

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798747_47798748delinsGA , CM000664.2:g.47798747_47798748delinsGA	GRCh38
NC_000002.11:g.48025886_48025887delinsGA , CM000664.1:g.48025886_48025887delinsGA	GRCh37
NC_000002.10:g.47879390_47879391delinsGA	NCBI36
NG_007111.1:g.20601_20602delinsGA , LRG_219:g.20601_20602delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.467_468delinsGA (MSH6)	ENSP00000406248.2:p.Glu156Gly
ENST00000420813.6:c.467_468delinsGA (MSH6)	ENSP00000390382.2:p.Glu156Gly
ENST00000455383.6:c.467_468delinsGA (MSH6)	ENSP00000397484.2:p.Glu156Gly
ENST00000700004.2:c.764_765delinsGA (MSH6)	ENSP00000514752.2:p.Glu255Gly
ENST00000699999.1:n.848_849delinsGA (MSH6)
ENST00000700000.1:c.764_765delinsGA (MSH6)	ENSP00000514749.1:p.Glu255Gly
ENST00000700002.1:c.770_771delinsGA (MSH6)	ENSP00000514750.1:p.Glu257Gly
ENST00000700003.1:c.627+2684_627+2685delinsGA (MSH6)	ENSP00000514751.1:n.627+2684_627+2685deli...
ENST00000234420.11:c.764_765delinsGA (MSH6) MANE Select	ENSP00000234420.5:p.Glu255Gly
ENST00000540021.6:c.374_375delinsGA (MSH6)	ENSP00000446475.1:p.Glu125Gly
ENST00000652107.1:c.467_468delinsGA (MSH6)	ENSP00000498629.1:p.Glu156Gly
ENST00000673637.1:c.467_468delinsGA (MSH6)	ENSP00000501310.1:p.Glu156Gly
ENST00000673922.1:n.486_487delinsGA (MSH6)
ENST00000234420.9:c.764_765delinsGA (MSH6)	ENSP00000234420.4:p.Glu255Gly
ENST00000405808.5:c.170-9308_170-9307delinsTC (FBXO11)	ENSP00000385127.1:n.170-9308_170-9307deli...
ENST00000434234.5:c.*124+9246_*124+9247delinsTC (FBXO11)	ENSP00000402692.1:n.*124+9246_*124+9247de...
ENST00000445503.5:c.*111_*112delinsGA (MSH6)	ENSP00000405294.1:n.*111_*112delinsGA
ENST00000456246.1:c.*252_*253delinsGA (MSH6)	ENSP00000410570.1:n.*252_*253delinsGA
ENST00000538136.1:c.-143_-142delinsGA (MSH6)	ENSP00000438580.1:n.-143_-142delinsGA
ENST00000540021.5:c.374_375delinsGA (MSH6)	ENSP00000446475.1:p.Glu125Gly
ENST00000614496.4:c.-143_-142delinsGA (MSH6)	ENSP00000477844.1:n.-143_-142delinsGA
ENST00000616033.4:c.761_762delinsGA (MSH6)	ENSP00000480261.1:p.Glu254Gly
ENST00000622629.4:c.-2333_-2332delinsGA (MSH6)	ENSP00000482078.1:n.-2333_-2332delinsGA
NM_000179.2:c.764_765delinsGA , LRG_219t1:c.764_765delinsGA (MSH6)	NP_000170.1:p.Glu255Gly
NM_001281492.1:c.374_375delinsGA (MSH6)	NP_001268421.1:p.Glu125Gly
NM_001281493.1:c.-143_-142delinsGA (MSH6)	NP_001268422.1:n.-143_-142delinsGA
NM_001281494.1:c.-143_-142delinsGA (MSH6)	NP_001268423.1:n.-143_-142delinsGA
XM_005264271.1:c.467_468delinsGA (MSH6)	XP_005264328.1:p.Glu156Gly
XM_011532798.1:c.581_582delinsGA (MSH6)	XP_011531100.1:p.Glu194Gly
XM_011532799.1:c.467_468delinsGA (MSH6)	XP_011531101.1:p.Glu156Gly
XM_011532800.1:c.467_468delinsGA (MSH6)	XP_011531102.1:p.Glu156Gly
XM_024452819.1:c.764_765delinsGA (MSH6)	XP_024308587.1:p.Glu255Gly
XM_024452820.1:c.581_582delinsGA (MSH6)	XP_024308588.1:p.Glu194Gly
XM_024452821.1:c.467_468delinsGA (MSH6)	XP_024308589.1:p.Glu156Gly
XM_024452822.1:c.-143_-142delinsGA (MSH6)	XP_024308590.1:n.-143_-142delinsGA
NM_000179.3:c.764_765delinsGA (MSH6) MANE Select	NP_000170.1:p.Glu255Gly
NM_001281492.2:c.374_375delinsGA (MSH6)	NP_001268421.1:p.Glu125Gly
NM_001281493.2:c.-143_-142delinsGA (MSH6)	NP_001268422.1:n.-143_-142delinsGA
NM_001281494.2:c.-143_-142delinsGA (MSH6)	NP_001268423.1:n.-143_-142delinsGA