Canonical Allele Identifier: CA891843285

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 574894
• ClinVar RCV Id: RCV000696948 ; RCV003163210 ; RCV003453468 ; RCV003144535
• dbSNP Id: rs1558394336
• MyVariant Identifiers: chr2:g.48033745_48033763del (hg19) ; chr2:g.47806606_47806624del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806606_47806624del , CM000664.2:g.47806606_47806624del	GRCh38
NC_000002.11:g.48033745_48033763del , CM000664.1:g.48033745_48033763del	GRCh37
NC_000002.10:g.47887249_47887267del	NCBI36
NG_007111.1:g.28460_28478del , LRG_219:g.28460_28478del
NG_008397.1:g.104056_104074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3659_3677del (MSH6)	ENSP00000406248.2:p.Lys1220ArgfsTer2
ENST00000420813.6:c.3659_3677del (MSH6)	ENSP00000390382.2:p.Lys1220ArgfsTer2
ENST00000455383.6:c.3659_3677del (MSH6)	ENSP00000397484.2:p.Lys1220ArgfsTer2
ENST00000700004.2:c.3572_3590del (MSH6)	ENSP00000514752.2:p.Lys1191ArgfsTer2
ENST00000699999.1:n.4630_4648del (MSH6)
ENST00000700000.1:c.2390_2408del (MSH6)	ENSP00000514749.1:p.Lys797ArgfsTer2
ENST00000700002.1:c.3962_3980del (MSH6)	ENSP00000514750.1:p.Lys1321ArgfsTer2
ENST00000700003.1:c.1411_1429del (MSH6)	ENSP00000514751.1:n.1411_1429del
ENST00000700004.1:c.2729_2747del (MSH6)	ENSP00000514752.1:p.Lys910ArgfsTer2
ENST00000700005.1:n.2807_2825del (MSH6)
ENST00000700006.1:n.5114_5132del (MSH6)
ENST00000700007.1:n.2551_2569del (MSH6)
ENST00000700008.1:n.2218_2236del (MSH6)
ENST00000700009.1:n.2620_2638del (MSH6)
ENST00000700010.1:n.1365_1383del (MSH6)
ENST00000700011.1:n.3250_3268del (MSH6)
ENST00000682451.1:n.4128_4146del (FBXO11)
ENST00000684712.1:n.4390_4408del (FBXO11)
ENST00000234420.11:c.3956_3974del (MSH6) MANE Select	ENSP00000234420.5:p.Lys1319ArgfsTer2
ENST00000540021.6:c.3566_3584del (MSH6)	ENSP00000446475.1:p.Lys1189ArgfsTer2
ENST00000652107.1:c.3659_3677del (MSH6)	ENSP00000498629.1:p.Lys1220ArgfsTer2
ENST00000673637.1:c.3659_3677del (MSH6)	ENSP00000501310.1:p.Lys1220ArgfsTer2
ENST00000234420.9:c.3956_3974del (MSH6)	ENSP00000234420.4:p.Lys1319ArgfsTer2
ENST00000405808.5:c.169+1575_169+1593del (FBXO11)	ENSP00000385127.1:n.169+1575_169+1593del
ENST00000434234.5:c.*124+1374_*124+1392del (FBXO11)	ENSP00000402692.1:n.*124+1374_*124+1392del
ENST00000445503.5:c.*3303_*3321del (MSH6)	ENSP00000405294.1:n.*3303_*3321del
ENST00000538136.1:c.3050_3068del (MSH6)	ENSP00000438580.1:p.Lys1017ArgfsTer2
ENST00000540021.5:c.3566_3584del (MSH6)	ENSP00000446475.1:p.Lys1189ArgfsTer2
ENST00000614496.4:c.3050_3068del (MSH6)	ENSP00000477844.1:p.Lys1017ArgfsTer2
ENST00000622629.4:c.857_875del (MSH6)	ENSP00000482078.1:p.Lys286ArgfsTer2
NM_000179.2:c.3956_3974del , LRG_219t1:c.3956_3974del (MSH6)	NP_000170.1:p.Lys1319ArgfsTer2
NM_001281492.1:c.3566_3584del (MSH6)	NP_001268421.1:p.Lys1189ArgfsTer2
NM_001281493.1:c.3050_3068del (MSH6)	NP_001268422.1:p.Lys1017ArgfsTer2
NM_001281494.1:c.3050_3068del (MSH6)	NP_001268423.1:p.Lys1017ArgfsTer2
XM_005264271.1:c.3659_3677del (MSH6)	XP_005264328.1:p.Lys1220ArgfsTer2
XM_011532798.1:c.3773_3791del (MSH6)	XP_011531100.1:p.Lys1258ArgfsTer2
XM_011532799.1:c.3659_3677del (MSH6)	XP_011531101.1:p.Lys1220ArgfsTer2
XM_011532800.1:c.3659_3677del (MSH6)	XP_011531102.1:p.Lys1220ArgfsTer2
XM_024452819.1:c.4049_4067del (MSH6)	XP_024308587.1:p.Lys1350ArgfsTer2
XM_024452820.1:c.3866_3884del (MSH6)	XP_024308588.1:p.Lys1289ArgfsTer2
XM_024452821.1:c.3752_3770del (MSH6)	XP_024308589.1:p.Lys1251ArgfsTer2
XM_024452822.1:c.3143_3161del (MSH6)	XP_024308590.1:p.Lys1048ArgfsTer2
NM_000179.3:c.3956_3974del (MSH6) MANE Select	NP_000170.1:p.Lys1319ArgfsTer2
NM_001281492.2:c.3566_3584del (MSH6)	NP_001268421.1:p.Lys1189ArgfsTer2
NM_001281493.2:c.3050_3068del (MSH6)	NP_001268422.1:p.Lys1017ArgfsTer2
NM_001281494.2:c.3050_3068del (MSH6)	NP_001268423.1:p.Lys1017ArgfsTer2