Canonical Allele Identifier: CA891843278

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 566264
• ClinVar RCV Id: RCV000686029 ; RCV000776597 ; RCV003453406 ; RCV003459664
• dbSNP Id: rs1558392033
• MyVariant Identifiers: chr2:g.48033395del (hg19) ; chr2:g.47806256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806256del , CM000664.2:g.47806256del	GRCh38
NC_000002.11:g.48033395del , CM000664.1:g.48033395del	GRCh37
NC_000002.10:g.47886899del	NCBI36
NG_007111.1:g.28110del , LRG_219:g.28110del
NG_008397.1:g.104422del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3402del (MSH6)	ENSP00000406248.2:p.Glu1135AsnfsTer6
ENST00000420813.6:c.3402del (MSH6)	ENSP00000390382.2:p.Glu1135AsnfsTer6
ENST00000455383.6:c.3402del (MSH6)	ENSP00000397484.2:p.Glu1135AsnfsTer6
ENST00000700004.2:c.3315del (MSH6)	ENSP00000514752.2:p.Glu1106AsnfsTer6
ENST00000699999.1:n.4373del (MSH6)
ENST00000700000.1:c.2133del (MSH6)	ENSP00000514749.1:p.Glu712AsnfsTer6
ENST00000700002.1:c.3705del (MSH6)	ENSP00000514750.1:p.Glu1236AsnfsTer6
ENST00000700003.1:c.1154del (MSH6)	ENSP00000514751.1:n.1154del
ENST00000700004.1:c.2472del (MSH6)	ENSP00000514752.1:p.Glu825AsnfsTer6
ENST00000700005.1:n.2550del (MSH6)
ENST00000700006.1:n.4857del (MSH6)
ENST00000700007.1:n.2294del (MSH6)
ENST00000700008.1:n.1868del (MSH6)
ENST00000700009.1:n.2363del (MSH6)
ENST00000700010.1:n.1108del (MSH6)
ENST00000700011.1:n.2993del (MSH6)
ENST00000682451.1:n.4494del (FBXO11)
ENST00000684712.1:n.4756del (FBXO11)
ENST00000234420.11:c.3699del (MSH6) MANE Select	ENSP00000234420.5:p.Glu1234AsnfsTer6
ENST00000540021.6:c.3309del (MSH6)	ENSP00000446475.1:p.Glu1104AsnfsTer6
ENST00000652107.1:c.3402del (MSH6)	ENSP00000498629.1:p.Glu1135AsnfsTer6
ENST00000673637.1:c.3402del (MSH6)	ENSP00000501310.1:p.Glu1135AsnfsTer6
ENST00000234420.9:c.3699del (MSH6)	ENSP00000234420.4:p.Glu1234AsnfsTer6
ENST00000405808.5:c.169+1941del (FBXO11)	ENSP00000385127.1:n.169+1941del
ENST00000434234.5:c.*124+1740del (FBXO11)	ENSP00000402692.1:n.*124+1740del
ENST00000445503.5:c.*3046del (MSH6)	ENSP00000405294.1:n.*3046del
ENST00000538136.1:c.2793del (MSH6)	ENSP00000438580.1:p.Glu932AsnfsTer6
ENST00000540021.5:c.3309del (MSH6)	ENSP00000446475.1:p.Glu1104AsnfsTer6
ENST00000614496.4:c.2793del (MSH6)	ENSP00000477844.1:p.Glu932AsnfsTer6
ENST00000622629.4:c.603del (MSH6)	ENSP00000482078.1:p.Glu202AsnfsTer6
NM_000179.2:c.3699del , LRG_219t1:c.3699del (MSH6)	NP_000170.1:p.Glu1234AsnfsTer6
NM_001281492.1:c.3309del (MSH6)	NP_001268421.1:p.Glu1104AsnfsTer6
NM_001281493.1:c.2793del (MSH6)	NP_001268422.1:p.Glu932AsnfsTer6
NM_001281494.1:c.2793del (MSH6)	NP_001268423.1:p.Glu932AsnfsTer6
XM_005264271.1:c.3402del (MSH6)	XP_005264328.1:p.Glu1135AsnfsTer6
XM_011532798.1:c.3516del (MSH6)	XP_011531100.1:p.Glu1173AsnfsTer6
XM_011532799.1:c.3402del (MSH6)	XP_011531101.1:p.Glu1135AsnfsTer6
XM_011532800.1:c.3402del (MSH6)	XP_011531102.1:p.Glu1135AsnfsTer6
XM_024452819.1:c.3699del (MSH6)	XP_024308587.1:p.Glu1234AsnfsTer6
XM_024452820.1:c.3516del (MSH6)	XP_024308588.1:p.Glu1173AsnfsTer6
XM_024452821.1:c.3402del (MSH6)	XP_024308589.1:p.Glu1135AsnfsTer6
XM_024452822.1:c.2793del (MSH6)	XP_024308590.1:p.Glu932AsnfsTer6
NM_000179.3:c.3699del (MSH6) MANE Select	NP_000170.1:p.Glu1234AsnfsTer6
NM_001281492.2:c.3309del (MSH6)	NP_001268421.1:p.Glu1104AsnfsTer6
NM_001281493.2:c.2793del (MSH6)	NP_001268422.1:p.Glu932AsnfsTer6
NM_001281494.2:c.2793del (MSH6)	NP_001268423.1:p.Glu932AsnfsTer6