Canonical Allele Identifier: CA2573051972

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1332649
• ClinVar RCV Id: RCV001805695
• dbSNP Id: rs2104542561

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806288_47806296dup , CM000664.2:g.47806288_47806296dup	GRCh38
NC_000002.11:g.48033427_48033435dup , CM000664.1:g.48033427_48033435dup	GRCh37
NC_000002.10:g.47886931_47886939dup	NCBI36
NG_007111.1:g.28142_28150dup , LRG_219:g.28142_28150dup
NG_008397.1:g.104380_104388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3434_3442dup (MSH6)	ENSP00000406248.2:p.Ser1147_Thr1148insIlePheSer
ENST00000420813.6:c.3434_3442dup (MSH6)	ENSP00000390382.2:p.Ser1147_Thr1148insIlePheSer
ENST00000455383.6:c.3434_3442dup (MSH6)	ENSP00000397484.2:p.Ser1147_Thr1148insIlePheSer
ENST00000700004.2:c.3347_3355dup (MSH6)	ENSP00000514752.2:p.Ser1118_Thr1119insIlePheSer
ENST00000699999.1:n.4405_4413dup (MSH6)
ENST00000700000.1:c.2165_2173dup (MSH6)	ENSP00000514749.1:p.Ser724_Thr725insIlePheSer
ENST00000700002.1:c.3737_3745dup (MSH6)	ENSP00000514750.1:p.Ser1248_Thr1249insIlePheSer
ENST00000700003.1:c.1186_1194dup (MSH6)	ENSP00000514751.1:n.1186_1194dup
ENST00000700004.1:c.2504_2512dup (MSH6)	ENSP00000514752.1:p.Ser837_Thr838insIlePheSer
ENST00000700005.1:n.2582_2590dup (MSH6)
ENST00000700006.1:n.4889_4897dup (MSH6)
ENST00000700007.1:n.2326_2334dup (MSH6)
ENST00000700008.1:n.1900_1908dup (MSH6)
ENST00000700009.1:n.2395_2403dup (MSH6)
ENST00000700010.1:n.1140_1148dup (MSH6)
ENST00000700011.1:n.3025_3033dup (MSH6)
ENST00000682451.1:n.4452_4460dup (FBXO11)
ENST00000684712.1:n.4714_4722dup (FBXO11)
ENST00000234420.11:c.3731_3739dup (MSH6) MANE Select	ENSP00000234420.5:p.Ser1246_Thr1247insIlePheSer
ENST00000540021.6:c.3341_3349dup (MSH6)	ENSP00000446475.1:p.Ser1116_Thr1117insIlePheSer
ENST00000652107.1:c.3434_3442dup (MSH6)	ENSP00000498629.1:p.Ser1147_Thr1148insIlePheSer
ENST00000673637.1:c.3434_3442dup (MSH6)	ENSP00000501310.1:p.Ser1147_Thr1148insIlePheSer
ENST00000234420.9:c.3731_3739dup (MSH6)	ENSP00000234420.4:p.Ser1246_Thr1247insIlePheSer
ENST00000405808.5:c.169+1899_169+1907dup (FBXO11)	ENSP00000385127.1:n.169+1899_169+1907dup
ENST00000434234.5:c.*124+1698_*124+1706dup (FBXO11)	ENSP00000402692.1:n.*124+1698_*124+1706dup
ENST00000445503.5:c.*3078_*3086dup (MSH6)	ENSP00000405294.1:n.*3078_*3086dup
ENST00000538136.1:c.2825_2833dup (MSH6)	ENSP00000438580.1:p.Ser944_Thr945insIlePheSer
ENST00000540021.5:c.3341_3349dup (MSH6)	ENSP00000446475.1:p.Ser1116_Thr1117insIlePheSer
ENST00000614496.4:c.2825_2833dup (MSH6)	ENSP00000477844.1:p.Ser944_Thr945insIlePheSer
ENST00000622629.4:c.635_643dup (MSH6)	ENSP00000482078.1:p.Ser214_Thr215insIlePheSer
NM_000179.2:c.3731_3739dup , LRG_219t1:c.3731_3739dup (MSH6)	NP_000170.1:p.Ser1246_Thr1247insIlePheSer
NM_001281492.1:c.3341_3349dup (MSH6)	NP_001268421.1:p.Ser1116_Thr1117insIlePheSer
NM_001281493.1:c.2825_2833dup (MSH6)	NP_001268422.1:p.Ser944_Thr945insIlePheSer
NM_001281494.1:c.2825_2833dup (MSH6)	NP_001268423.1:p.Ser944_Thr945insIlePheSer
XM_005264271.1:c.3434_3442dup (MSH6)	XP_005264328.1:p.Ser1147_Thr1148insIlePheSer
XM_011532798.1:c.3548_3556dup (MSH6)	XP_011531100.1:p.Ser1185_Thr1186insIlePheSer
XM_011532799.1:c.3434_3442dup (MSH6)	XP_011531101.1:p.Ser1147_Thr1148insIlePheSer
XM_011532800.1:c.3434_3442dup (MSH6)	XP_011531102.1:p.Ser1147_Thr1148insIlePheSer
XM_024452819.1:c.3731_3739dup (MSH6)	XP_024308587.1:p.Ser1246_Thr1247insIlePheSer
XM_024452820.1:c.3548_3556dup (MSH6)	XP_024308588.1:p.Ser1185_Thr1186insIlePheSer
XM_024452821.1:c.3434_3442dup (MSH6)	XP_024308589.1:p.Ser1147_Thr1148insIlePheSer
XM_024452822.1:c.2825_2833dup (MSH6)	XP_024308590.1:p.Ser944_Thr945insIlePheSer
NM_000179.3:c.3731_3739dup (MSH6) MANE Select	NP_000170.1:p.Ser1246_Thr1247insIlePheSer
NM_001281492.2:c.3341_3349dup (MSH6)	NP_001268421.1:p.Ser1116_Thr1117insIlePheSer
NM_001281493.2:c.2825_2833dup (MSH6)	NP_001268422.1:p.Ser944_Thr945insIlePheSer
NM_001281494.2:c.2825_2833dup (MSH6)	NP_001268423.1:p.Ser944_Thr945insIlePheSer