Canonical Allele Identifier: CA2695200645

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673644
• ClinVar RCV Id: RCV003450281

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806551_47806552insG , CM000664.2:g.47806551_47806552insG	GRCh38
NC_000002.11:g.48033690_48033691insG , CM000664.1:g.48033690_48033691insG	GRCh37
NC_000002.10:g.47887194_47887195insG	NCBI36
NG_007111.1:g.28405_28406insG , LRG_219:g.28405_28406insG
NG_008397.1:g.104124_104125insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3604_3605insG (MSH6)	ENSP00000406248.2:p.Asn1202ArgfsTer7
ENST00000420813.6:c.3604_3605insG (MSH6)	ENSP00000390382.2:p.Asn1202ArgfsTer7
ENST00000455383.6:c.3604_3605insG (MSH6)	ENSP00000397484.2:p.Asn1202ArgfsTer7
ENST00000700004.2:c.3517_3518insG (MSH6)	ENSP00000514752.2:p.Asn1173ArgfsTer7
ENST00000699999.1:n.4575_4576insG (MSH6)
ENST00000700000.1:c.2335_2336insG (MSH6)	ENSP00000514749.1:p.Asn779ArgfsTer7
ENST00000700002.1:c.3907_3908insG (MSH6)	ENSP00000514750.1:p.Asn1303ArgfsTer7
ENST00000700003.1:c.1356_1357insG (MSH6)	ENSP00000514751.1:n.1356_1357insG
ENST00000700004.1:c.2674_2675insG (MSH6)	ENSP00000514752.1:p.Asn892ArgfsTer7
ENST00000700005.1:n.2752_2753insG (MSH6)
ENST00000700006.1:n.5059_5060insG (MSH6)
ENST00000700007.1:n.2496_2497insG (MSH6)
ENST00000700008.1:n.2163_2164insG (MSH6)
ENST00000700009.1:n.2565_2566insG (MSH6)
ENST00000700010.1:n.1310_1311insG (MSH6)
ENST00000700011.1:n.3195_3196insG (MSH6)
ENST00000682451.1:n.4196_4197insC (FBXO11)
ENST00000684712.1:n.4458_4459insC (FBXO11)
ENST00000234420.11:c.3901_3902insG (MSH6) MANE Select	ENSP00000234420.5:p.Asn1301ArgfsTer7
ENST00000540021.6:c.3511_3512insG (MSH6)	ENSP00000446475.1:p.Asn1171ArgfsTer7
ENST00000652107.1:c.3604_3605insG (MSH6)	ENSP00000498629.1:p.Asn1202ArgfsTer7
ENST00000673637.1:c.3604_3605insG (MSH6)	ENSP00000501310.1:p.Asn1202ArgfsTer7
ENST00000234420.9:c.3901_3902insG (MSH6)	ENSP00000234420.4:p.Asn1301ArgfsTer7
ENST00000405808.5:c.169+1643_169+1644insC (FBXO11)	ENSP00000385127.1:n.169+1643_169+1644insC
ENST00000434234.5:c.*124+1442_*124+1443insC (FBXO11)	ENSP00000402692.1:n.*124+1442_*124+1443insC
ENST00000445503.5:c.*3248_*3249insG (MSH6)	ENSP00000405294.1:n.*3248_*3249insG
ENST00000538136.1:c.2995_2996insG (MSH6)	ENSP00000438580.1:p.Asn999ArgfsTer7
ENST00000540021.5:c.3511_3512insG (MSH6)	ENSP00000446475.1:p.Asn1171ArgfsTer7
ENST00000614496.4:c.2995_2996insG (MSH6)	ENSP00000477844.1:p.Asn999ArgfsTer7
ENST00000622629.4:c.802_803insG (MSH6)	ENSP00000482078.1:p.Asn268ArgfsTer7
NM_000179.2:c.3901_3902insG , LRG_219t1:c.3901_3902insG (MSH6)	NP_000170.1:p.Asn1301ArgfsTer7
NM_001281492.1:c.3511_3512insG (MSH6)	NP_001268421.1:p.Asn1171ArgfsTer7
NM_001281493.1:c.2995_2996insG (MSH6)	NP_001268422.1:p.Asn999ArgfsTer7
NM_001281494.1:c.2995_2996insG (MSH6)	NP_001268423.1:p.Asn999ArgfsTer7
XM_005264271.1:c.3604_3605insG (MSH6)	XP_005264328.1:p.Asn1202ArgfsTer7
XM_011532798.1:c.3718_3719insG (MSH6)	XP_011531100.1:p.Asn1240ArgfsTer7
XM_011532799.1:c.3604_3605insG (MSH6)	XP_011531101.1:p.Asn1202ArgfsTer7
XM_011532800.1:c.3604_3605insG (MSH6)	XP_011531102.1:p.Asn1202ArgfsTer7
XM_024452819.1:c.3994_3995insG (MSH6)	XP_024308587.1:p.Asn1332ArgfsTer7
XM_024452820.1:c.3811_3812insG (MSH6)	XP_024308588.1:p.Asn1271ArgfsTer7
XM_024452821.1:c.3697_3698insG (MSH6)	XP_024308589.1:p.Asn1233ArgfsTer7
XM_024452822.1:c.3088_3089insG (MSH6)	XP_024308590.1:p.Asn1030ArgfsTer7
NM_000179.3:c.3901_3902insG (MSH6) MANE Select	NP_000170.1:p.Asn1301ArgfsTer7
NM_001281492.2:c.3511_3512insG (MSH6)	NP_001268421.1:p.Asn1171ArgfsTer7
NM_001281493.2:c.2995_2996insG (MSH6)	NP_001268422.1:p.Asn999ArgfsTer7
NM_001281494.2:c.2995_2996insG (MSH6)	NP_001268423.1:p.Asn999ArgfsTer7