Canonical Allele Identifier: CA2496054554

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1043410
• ClinVar RCV Id: RCV001347514
• dbSNP Id: rs1670213430

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806802_47806846dup , CM000664.2:g.47806802_47806846dup	GRCh38
NC_000002.11:g.48033941_48033985dup , CM000664.1:g.48033941_48033985dup	GRCh37
NC_000002.10:g.47887445_47887489dup	NCBI36
NG_007111.1:g.28656_28700dup , LRG_219:g.28656_28700dup
NG_008397.1:g.103831_103875dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3728_3772dup (MSH6)	ENSP00000406248.2:p.Leu1257_Ile1258insArgSerThrValAspAlaGluAl...
ENST00000420813.6:c.3728_3772dup (MSH6)	ENSP00000390382.2:p.Leu1257_Ile1258insArgSerThrValAspAlaGluAl...
ENST00000455383.6:c.3728_3772dup (MSH6)	ENSP00000397484.2:p.Leu1257_Ile1258insArgSerThrValAspAlaGluAl...
ENST00000700004.2:c.3641_3685dup (MSH6)	ENSP00000514752.2:p.Leu1228_Ile1229insArgSerThrValAspAlaGluAl...
ENST00000699999.1:n.4699_4743dup (MSH6)
ENST00000700000.1:c.2459_2503dup (MSH6)	ENSP00000514749.1:p.Leu834_Ile835insArgSerThrValAspAlaGluAlaV...
ENST00000700002.1:c.4031_4075dup (MSH6)	ENSP00000514750.1:p.Leu1358_Ile1359insArgSerThrValAspAlaGluAl...
ENST00000700003.1:c.1480_1524dup (MSH6)	ENSP00000514751.1:n.1480_1524dup
ENST00000700004.1:c.2798_2842dup (MSH6)	ENSP00000514752.1:p.Leu947_Ile948insArgSerThrValAspAlaGluAlaV...
ENST00000700005.1:n.3003_3047dup (MSH6)
ENST00000700007.1:n.2620_2664dup (MSH6)
ENST00000700008.1:n.2287_2331dup (MSH6)
ENST00000700009.1:n.2689_2733dup (MSH6)
ENST00000700010.1:n.1434_1478dup (MSH6)
ENST00000700011.1:n.3319_3363dup (MSH6)
ENST00000682451.1:n.3903_3947dup (FBXO11)
ENST00000684712.1:n.4165_4209dup (FBXO11)
ENST00000234420.11:c.4025_4069dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu1356_Ile1357insArgSerThrValAspAlaGluAl...
ENST00000540021.6:c.3635_3679dup (MSH6)	ENSP00000446475.1:p.Leu1226_Ile1227insArgSerThrValAspAlaGluAl...
ENST00000652107.1:c.3728_3772dup (MSH6)	ENSP00000498629.1:p.Leu1257_Ile1258insArgSerThrValAspAlaGluAl...
ENST00000673637.1:c.3728_3772dup (MSH6)	ENSP00000501310.1:p.Leu1257_Ile1258insArgSerThrValAspAlaGluAl...
ENST00000234420.9:c.4025_4069dup (MSH6)	ENSP00000234420.4:p.Leu1356_Ile1357insArgSerThrValAspAlaGluAl...
ENST00000405808.5:c.169+1350_169+1394dup (FBXO11)	ENSP00000385127.1:n.169+1350_169+1394dup
ENST00000434234.5:c.*124+1149_*124+1193dup (FBXO11)	ENSP00000402692.1:n.*124+1149_*124+1193dup
ENST00000445503.5:c.*3372_*3416dup (MSH6)	ENSP00000405294.1:n.*3372_*3416dup
ENST00000465204.5:n.3065_3109dup (FBXO11)
ENST00000538136.1:c.3119_3163dup (MSH6)	ENSP00000438580.1:p.Leu1054_Ile1055insArgSerThrValAspAlaGluAl...
ENST00000540021.5:c.3635_3679dup (MSH6)	ENSP00000446475.1:p.Leu1226_Ile1227insArgSerThrValAspAlaGluAl...
ENST00000614496.4:c.3119_3163dup (MSH6)	ENSP00000477844.1:p.Leu1054_Ile1055insArgSerThrValAspAlaGluAl...
ENST00000622629.4:c.926_970dup (MSH6)	ENSP00000482078.1:p.Leu323_Ile324insArgSerThrValAspAlaGluAlaV...
NM_000179.2:c.4025_4069dup , LRG_219t1:c.4025_4069dup (MSH6)	NP_000170.1:p.Leu1356_Ile1357insArgSerThrValAspAlaGluAlaValHi...
NM_001281492.1:c.3635_3679dup (MSH6)	NP_001268421.1:p.Leu1226_Ile1227insArgSerThrValAspAlaGluAlaVa...
NM_001281493.1:c.3119_3163dup (MSH6)	NP_001268422.1:p.Leu1054_Ile1055insArgSerThrValAspAlaGluAlaVa...
NM_001281494.1:c.3119_3163dup (MSH6)	NP_001268423.1:p.Leu1054_Ile1055insArgSerThrValAspAlaGluAlaVa...
XM_005264271.1:c.3728_3772dup (MSH6)	XP_005264328.1:p.Leu1257_Ile1258insArgSerThrValAspAlaGluAlaVa...
XM_011532798.1:c.3842_3886dup (MSH6)	XP_011531100.1:p.Leu1295_Ile1296insArgSerThrValAspAlaGluAlaVa...
XM_011532799.1:c.3728_3772dup (MSH6)	XP_011531101.1:p.Leu1257_Ile1258insArgSerThrValAspAlaGluAlaVa...
XM_011532800.1:c.3728_3772dup (MSH6)	XP_011531102.1:p.Leu1257_Ile1258insArgSerThrValAspAlaGluAlaVa...
XM_024452819.1:c.4118_4162dup (MSH6)	XP_024308587.1:p.Leu1387_Ile1388insArgSerThrValAspAlaGluAlaVa...
XM_024452820.1:c.3935_3979dup (MSH6)	XP_024308588.1:p.Leu1326_Ile1327insArgSerThrValAspAlaGluAlaVa...
XM_024452821.1:c.3821_3865dup (MSH6)	XP_024308589.1:p.Leu1288_Ile1289insArgSerThrValAspAlaGluAlaVa...
XM_024452822.1:c.3212_3256dup (MSH6)	XP_024308590.1:p.Leu1085_Ile1086insArgSerThrValAspAlaGluAlaVa...
NM_000179.3:c.4025_4069dup (MSH6) MANE Select	NP_000170.1:p.Leu1356_Ile1357insArgSerThrValAspAlaGluAlaValHi...
NM_001281492.2:c.3635_3679dup (MSH6)	NP_001268421.1:p.Leu1226_Ile1227insArgSerThrValAspAlaGluAlaVa...
NM_001281493.2:c.3119_3163dup (MSH6)	NP_001268422.1:p.Leu1054_Ile1055insArgSerThrValAspAlaGluAlaVa...
NM_001281494.2:c.3119_3163dup (MSH6)	NP_001268423.1:p.Leu1054_Ile1055insArgSerThrValAspAlaGluAlaVa...