Canonical Allele Identifier: CA014040

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs587779286
• MyVariant Identifiers: chr2:g.48033421_48033423del (hg19) ; chr2:g.47806282_47806284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806282_47806284del , CM000664.2:g.47806282_47806284del	GRCh38
NC_000002.11:g.48033421_48033423del , CM000664.1:g.48033421_48033423del	GRCh37
NC_000002.10:g.47886925_47886927del	NCBI36
NG_007111.1:g.28136_28138del , LRG_219:g.28136_28138del
NG_008397.1:g.104392_104394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3428_3430del (MSH6)	ENSP00000406248.2:p.Arg1143_Thr1144delinsPro
ENST00000420813.6:c.3428_3430del (MSH6)	ENSP00000390382.2:p.Arg1143_Thr1144delinsPro
ENST00000455383.6:c.3428_3430del (MSH6)	ENSP00000397484.2:p.Arg1143_Thr1144delinsPro
ENST00000700004.2:c.3341_3343del (MSH6)	ENSP00000514752.2:p.Arg1114_Thr1115delinsPro
ENST00000699999.1:n.4399_4401del (MSH6)
ENST00000700000.1:c.2159_2161del (MSH6)	ENSP00000514749.1:p.Arg720_Thr721delinsPro
ENST00000700002.1:c.3731_3733del (MSH6)	ENSP00000514750.1:p.Arg1244_Thr1245delinsPro
ENST00000700003.1:c.1180_1182del (MSH6)	ENSP00000514751.1:n.1180_1182del
ENST00000700004.1:c.2498_2500del (MSH6)	ENSP00000514752.1:p.Arg833_Thr834delinsPro
ENST00000700005.1:n.2576_2578del (MSH6)
ENST00000700006.1:n.4883_4885del (MSH6)
ENST00000700007.1:n.2320_2322del (MSH6)
ENST00000700008.1:n.1894_1896del (MSH6)
ENST00000700009.1:n.2389_2391del (MSH6)
ENST00000700010.1:n.1134_1136del (MSH6)
ENST00000700011.1:n.3019_3021del (MSH6)
ENST00000682451.1:n.4464_4466del (FBXO11)
ENST00000684712.1:n.4726_4728del (FBXO11)
ENST00000234420.11:c.3725_3727del (MSH6) MANE Select	ENSP00000234420.5:p.Arg1242_Thr1243delinsPro
ENST00000540021.6:c.3335_3337del (MSH6)	ENSP00000446475.1:p.Arg1112_Thr1113delinsPro
ENST00000652107.1:c.3428_3430del (MSH6)	ENSP00000498629.1:p.Arg1143_Thr1144delinsPro
ENST00000673637.1:c.3428_3430del (MSH6)	ENSP00000501310.1:p.Arg1143_Thr1144delinsPro
ENST00000234420.9:c.3725_3727del (MSH6)	ENSP00000234420.4:p.Arg1242_Thr1243delinsPro
ENST00000405808.5:c.169+1911_169+1913del (FBXO11)	ENSP00000385127.1:n.169+1911_169+1913del
ENST00000434234.5:c.*124+1710_*124+1712del (FBXO11)	ENSP00000402692.1:n.*124+1710_*124+1712del
ENST00000445503.5:c.*3072_*3074del (MSH6)	ENSP00000405294.1:n.*3072_*3074del
ENST00000538136.1:c.2819_2821del (MSH6)	ENSP00000438580.1:p.Arg940_Thr941delinsPro
ENST00000540021.5:c.3335_3337del (MSH6)	ENSP00000446475.1:p.Arg1112_Thr1113delinsPro
ENST00000614496.4:c.2819_2821del (MSH6)	ENSP00000477844.1:p.Arg940_Thr941delinsPro
ENST00000622629.4:c.629_631del (MSH6)	ENSP00000482078.1:p.Arg210_Thr211delinsPro
NM_000179.2:c.3725_3727del , LRG_219t1:c.3725_3727del (MSH6)	NP_000170.1:p.Arg1242_Thr1243delinsPro
NM_001281492.1:c.3335_3337del (MSH6)	NP_001268421.1:p.Arg1112_Thr1113delinsPro
NM_001281493.1:c.2819_2821del (MSH6)	NP_001268422.1:p.Arg940_Thr941delinsPro
NM_001281494.1:c.2819_2821del (MSH6)	NP_001268423.1:p.Arg940_Thr941delinsPro
XM_005264271.1:c.3428_3430del (MSH6)	XP_005264328.1:p.Arg1143_Thr1144delinsPro
XM_011532798.1:c.3542_3544del (MSH6)	XP_011531100.1:p.Arg1181_Thr1182delinsPro
XM_011532799.1:c.3428_3430del (MSH6)	XP_011531101.1:p.Arg1143_Thr1144delinsPro
XM_011532800.1:c.3428_3430del (MSH6)	XP_011531102.1:p.Arg1143_Thr1144delinsPro
XM_024452819.1:c.3725_3727del (MSH6)	XP_024308587.1:p.Arg1242_Thr1243delinsPro
XM_024452820.1:c.3542_3544del (MSH6)	XP_024308588.1:p.Arg1181_Thr1182delinsPro
XM_024452821.1:c.3428_3430del (MSH6)	XP_024308589.1:p.Arg1143_Thr1144delinsPro
XM_024452822.1:c.2819_2821del (MSH6)	XP_024308590.1:p.Arg940_Thr941delinsPro
NM_000179.3:c.3725_3727del (MSH6) MANE Select	NP_000170.1:p.Arg1242_Thr1243delinsPro
NM_001281492.2:c.3335_3337del (MSH6)	NP_001268421.1:p.Arg1112_Thr1113delinsPro
NM_001281493.2:c.2819_2821del (MSH6)	NP_001268422.1:p.Arg940_Thr941delinsPro
NM_001281494.2:c.2819_2821del (MSH6)	NP_001268423.1:p.Arg940_Thr941delinsPro