Canonical Allele Identifier: CA658795758

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 525848
• ClinVar RCV Id: RCV000630193
• dbSNP Id: rs1553333654
• MyVariant Identifiers: chr2:g.48033725_48033730dup (hg19) ; chr2:g.47806586_47806591dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806586_47806591dup , CM000664.2:g.47806586_47806591dup	GRCh38
NC_000002.11:g.48033725_48033730dup , CM000664.1:g.48033725_48033730dup	GRCh37
NC_000002.10:g.47887229_47887234dup	NCBI36
NG_007111.1:g.28440_28445dup , LRG_219:g.28440_28445dup
NG_008397.1:g.104085_104090dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3639_3644dup (MSH6)	ENSP00000406248.2:p.Ile1214_Gln1215insHisIle
ENST00000420813.6:c.3639_3644dup (MSH6)	ENSP00000390382.2:p.Ile1214_Gln1215insHisIle
ENST00000455383.6:c.3639_3644dup (MSH6)	ENSP00000397484.2:p.Ile1214_Gln1215insHisIle
ENST00000700004.2:c.3552_3557dup (MSH6)	ENSP00000514752.2:p.Ile1185_Gln1186insHisIle
ENST00000699999.1:n.4610_4615dup (MSH6)
ENST00000700000.1:c.2370_2375dup (MSH6)	ENSP00000514749.1:p.Ile791_Gln792insHisIle
ENST00000700002.1:c.3942_3947dup (MSH6)	ENSP00000514750.1:p.Ile1315_Gln1316insHisIle
ENST00000700003.1:c.1391_1396dup (MSH6)	ENSP00000514751.1:n.1391_1396dup
ENST00000700004.1:c.2709_2714dup (MSH6)	ENSP00000514752.1:p.Ile904_Gln905insHisIle
ENST00000700005.1:n.2787_2792dup (MSH6)
ENST00000700006.1:n.5094_5099dup (MSH6)
ENST00000700007.1:n.2531_2536dup (MSH6)
ENST00000700008.1:n.2198_2203dup (MSH6)
ENST00000700009.1:n.2600_2605dup (MSH6)
ENST00000700010.1:n.1345_1350dup (MSH6)
ENST00000700011.1:n.3230_3235dup (MSH6)
ENST00000682451.1:n.4157_4162dup (FBXO11)
ENST00000684712.1:n.4419_4424dup (FBXO11)
ENST00000234420.11:c.3936_3941dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile1313_Gln1314insHisIle
ENST00000540021.6:c.3546_3551dup (MSH6)	ENSP00000446475.1:p.Ile1183_Gln1184insHisIle
ENST00000652107.1:c.3639_3644dup (MSH6)	ENSP00000498629.1:p.Ile1214_Gln1215insHisIle
ENST00000673637.1:c.3639_3644dup (MSH6)	ENSP00000501310.1:p.Ile1214_Gln1215insHisIle
ENST00000234420.9:c.3936_3941dup (MSH6)	ENSP00000234420.4:p.Ile1313_Gln1314insHisIle
ENST00000405808.5:c.169+1604_169+1609dup (FBXO11)	ENSP00000385127.1:n.169+1604_169+1609dup
ENST00000434234.5:c.*124+1403_*124+1408dup (FBXO11)	ENSP00000402692.1:n.*124+1403_*124+1408dup
ENST00000445503.5:c.*3283_*3288dup (MSH6)	ENSP00000405294.1:n.*3283_*3288dup
ENST00000538136.1:c.3030_3035dup (MSH6)	ENSP00000438580.1:p.Ile1011_Gln1012insHisIle
ENST00000540021.5:c.3546_3551dup (MSH6)	ENSP00000446475.1:p.Ile1183_Gln1184insHisIle
ENST00000614496.4:c.3030_3035dup (MSH6)	ENSP00000477844.1:p.Ile1011_Gln1012insHisIle
ENST00000622629.4:c.837_842dup (MSH6)	ENSP00000482078.1:p.Ile280_Gln281insHisIle
NM_000179.2:c.3936_3941dup , LRG_219t1:c.3936_3941dup (MSH6)	NP_000170.1:p.Ile1313_Gln1314insHisIle
NM_001281492.1:c.3546_3551dup (MSH6)	NP_001268421.1:p.Ile1183_Gln1184insHisIle
NM_001281493.1:c.3030_3035dup (MSH6)	NP_001268422.1:p.Ile1011_Gln1012insHisIle
NM_001281494.1:c.3030_3035dup (MSH6)	NP_001268423.1:p.Ile1011_Gln1012insHisIle
XM_005264271.1:c.3639_3644dup (MSH6)	XP_005264328.1:p.Ile1214_Gln1215insHisIle
XM_011532798.1:c.3753_3758dup (MSH6)	XP_011531100.1:p.Ile1252_Gln1253insHisIle
XM_011532799.1:c.3639_3644dup (MSH6)	XP_011531101.1:p.Ile1214_Gln1215insHisIle
XM_011532800.1:c.3639_3644dup (MSH6)	XP_011531102.1:p.Ile1214_Gln1215insHisIle
XM_024452819.1:c.4029_4034dup (MSH6)	XP_024308587.1:p.Ile1344_Gln1345insHisIle
XM_024452820.1:c.3846_3851dup (MSH6)	XP_024308588.1:p.Ile1283_Gln1284insHisIle
XM_024452821.1:c.3732_3737dup (MSH6)	XP_024308589.1:p.Ile1245_Gln1246insHisIle
XM_024452822.1:c.3123_3128dup (MSH6)	XP_024308590.1:p.Ile1042_Gln1043insHisIle
NM_000179.3:c.3936_3941dup (MSH6) MANE Select	NP_000170.1:p.Ile1313_Gln1314insHisIle
NM_001281492.2:c.3546_3551dup (MSH6)	NP_001268421.1:p.Ile1183_Gln1184insHisIle
NM_001281493.2:c.3030_3035dup (MSH6)	NP_001268422.1:p.Ile1011_Gln1012insHisIle
NM_001281494.2:c.3030_3035dup (MSH6)	NP_001268423.1:p.Ile1011_Gln1012insHisIle