Canonical Allele Identifier: CA915943803

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 664677
• ClinVar RCV Id: RCV000822820 ; RCV003453732
• dbSNP Id: rs1572720562

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798833_47798834insC , CM000664.2:g.47798833_47798834insC	GRCh38
NC_000002.11:g.48025972_48025973insC , CM000664.1:g.48025972_48025973insC	GRCh37
NC_000002.10:g.47879476_47879477insC	NCBI36
NG_007111.1:g.20687_20688insC , LRG_219:g.20687_20688insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.553_554insC (MSH6)	ENSP00000406248.2:p.Asp185AlafsTer2
ENST00000420813.6:c.553_554insC (MSH6)	ENSP00000390382.2:p.Asp185AlafsTer2
ENST00000455383.6:c.553_554insC (MSH6)	ENSP00000397484.2:p.Asp185AlafsTer2
ENST00000700004.2:c.850_851insC (MSH6)	ENSP00000514752.2:p.Asp284AlafsTer2
ENST00000699999.1:n.934_935insC (MSH6)
ENST00000700000.1:c.850_851insC (MSH6)	ENSP00000514749.1:p.Asp284AlafsTer2
ENST00000700002.1:c.856_857insC (MSH6)	ENSP00000514750.1:p.Asp286AlafsTer2
ENST00000700003.1:c.627+2770_627+2771insC (MSH6)	ENSP00000514751.1:n.627+2770_627+2771insC
ENST00000700004.1:c.7_8insC (MSH6)	ENSP00000514752.1:p.Asp3AlafsTer2
ENST00000234420.11:c.850_851insC (MSH6) MANE Select	ENSP00000234420.5:p.Asp284AlafsTer2
ENST00000540021.6:c.460_461insC (MSH6)	ENSP00000446475.1:p.Asp154AlafsTer2
ENST00000652107.1:c.553_554insC (MSH6)	ENSP00000498629.1:p.Asp185AlafsTer2
ENST00000673637.1:c.553_554insC (MSH6)	ENSP00000501310.1:p.Asp185AlafsTer2
ENST00000673922.1:n.572_573insC (MSH6)
ENST00000234420.9:c.850_851insC (MSH6)	ENSP00000234420.4:p.Asp284AlafsTer2
ENST00000405808.5:c.169+9361_169+9362insG (FBXO11)	ENSP00000385127.1:n.169+9361_169+9362insG
ENST00000434234.5:c.*124+9160_*124+9161insG (FBXO11)	ENSP00000402692.1:n.*124+9160_*124+9161insG
ENST00000445503.5:c.*197_*198insC (MSH6)	ENSP00000405294.1:n.*197_*198insC
ENST00000456246.1:c.*338_*339insC (MSH6)	ENSP00000410570.1:n.*338_*339insC
ENST00000538136.1:c.-57_-56insC (MSH6)	ENSP00000438580.1:n.-57_-56insC
ENST00000540021.5:c.460_461insC (MSH6)	ENSP00000446475.1:p.Asp154AlafsTer2
ENST00000614496.4:c.-57_-56insC (MSH6)	ENSP00000477844.1:n.-57_-56insC
ENST00000616033.4:c.847_848insC (MSH6)	ENSP00000480261.1:p.Asp283AlafsTer2
ENST00000622629.4:c.-2247_-2246insC (MSH6)	ENSP00000482078.1:n.-2247_-2246insC
NM_000179.2:c.850_851insC , LRG_219t1:c.850_851insC (MSH6)	NP_000170.1:p.Asp284AlafsTer2
NM_001281492.1:c.460_461insC (MSH6)	NP_001268421.1:p.Asp154AlafsTer2
NM_001281493.1:c.-57_-56insC (MSH6)	NP_001268422.1:n.-57_-56insC
NM_001281494.1:c.-57_-56insC (MSH6)	NP_001268423.1:n.-57_-56insC
XM_005264271.1:c.553_554insC (MSH6)	XP_005264328.1:p.Asp185AlafsTer2
XM_011532798.1:c.667_668insC (MSH6)	XP_011531100.1:p.Asp223AlafsTer2
XM_011532799.1:c.553_554insC (MSH6)	XP_011531101.1:p.Asp185AlafsTer2
XM_011532800.1:c.553_554insC (MSH6)	XP_011531102.1:p.Asp185AlafsTer2
XM_024452819.1:c.850_851insC (MSH6)	XP_024308587.1:p.Asp284AlafsTer2
XM_024452820.1:c.667_668insC (MSH6)	XP_024308588.1:p.Asp223AlafsTer2
XM_024452821.1:c.553_554insC (MSH6)	XP_024308589.1:p.Asp185AlafsTer2
XM_024452822.1:c.-57_-56insC (MSH6)	XP_024308590.1:n.-57_-56insC
NM_000179.3:c.850_851insC (MSH6) MANE Select	NP_000170.1:p.Asp284AlafsTer2
NM_001281492.2:c.460_461insC (MSH6)	NP_001268421.1:p.Asp154AlafsTer2
NM_001281493.2:c.-57_-56insC (MSH6)	NP_001268422.1:n.-57_-56insC
NM_001281494.2:c.-57_-56insC (MSH6)	NP_001268423.1:n.-57_-56insC