Canonical Allele Identifier: CA915943952

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 641611
• ClinVar RCV Id: RCV000794887 ; RCV003453644
• dbSNP Id: rs1572735943

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803630_47803631dup , CM000664.2:g.47803630_47803631dup	GRCh38
NC_000002.11:g.48030769_48030770dup , CM000664.1:g.48030769_48030770dup	GRCh37
NC_000002.10:g.47884273_47884274dup	NCBI36
NG_007111.1:g.25484_25485dup , LRG_219:g.25484_25485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3086_3087dup (MSH6)	ENSP00000406248.2:p.Cys1030IlefsTer17
ENST00000420813.6:c.3086_3087dup (MSH6)	ENSP00000390382.2:p.Cys1030IlefsTer17
ENST00000455383.6:c.3086_3087dup (MSH6)	ENSP00000397484.2:p.Cys1030IlefsTer17
ENST00000700004.2:c.3173-1988_3173-1987dup (MSH6)	ENSP00000514752.2:n.3173-1988_3173-1987dup
ENST00000699999.1:n.3467_3468dup (MSH6)
ENST00000700000.1:c.1817_1818dup (MSH6)	ENSP00000514749.1:p.Cys607IlefsTer17
ENST00000700002.1:c.3389_3390dup (MSH6)	ENSP00000514750.1:p.Cys1131IlefsTer17
ENST00000700003.1:c.838_839dup (MSH6)	ENSP00000514751.1:n.838_839dup
ENST00000700004.1:c.2330-1988_2330-1987dup (MSH6)	ENSP00000514752.1:n.2330-1988_2330-1987dup
ENST00000700005.1:n.2234_2235dup (MSH6)
ENST00000700006.1:n.2231_2232dup (MSH6)
ENST00000700007.1:n.1388_1389dup (MSH6)
ENST00000700008.1:n.962_963dup (MSH6)
ENST00000700009.1:n.961_962dup (MSH6)
ENST00000700010.1:n.792_793dup (MSH6)
ENST00000700011.1:n.863_864dup (MSH6)
ENST00000234420.11:c.3383_3384dup (MSH6) MANE Select	ENSP00000234420.5:p.Cys1129IlefsTer17
ENST00000540021.6:c.2993_2994dup (MSH6)	ENSP00000446475.1:p.Cys999IlefsTer17
ENST00000652107.1:c.3086_3087dup (MSH6)	ENSP00000498629.1:p.Cys1030IlefsTer17
ENST00000673637.1:c.3086_3087dup (MSH6)	ENSP00000501310.1:p.Cys1030IlefsTer17
ENST00000234420.9:c.3383_3384dup (MSH6)	ENSP00000234420.4:p.Cys1129IlefsTer17
ENST00000405808.5:c.169+4565_169+4566dup (FBXO11)	ENSP00000385127.1:n.169+4565_169+4566dup
ENST00000434234.5:c.*124+4364_*124+4365dup (FBXO11)	ENSP00000402692.1:n.*124+4364_*124+4365dup
ENST00000445503.5:c.*2730_*2731dup (MSH6)	ENSP00000405294.1:n.*2730_*2731dup
ENST00000538136.1:c.2477_2478dup (MSH6)	ENSP00000438580.1:p.Cys827IlefsTer17
ENST00000540021.5:c.2993_2994dup (MSH6)	ENSP00000446475.1:p.Cys999IlefsTer17
ENST00000614496.4:c.2477_2478dup (MSH6)	ENSP00000477844.1:p.Cys827IlefsTer17
ENST00000622629.4:c.286_287dup (MSH6)
NM_000179.2:c.3383_3384dup , LRG_219t1:c.3383_3384dup (MSH6)	NP_000170.1:p.Cys1129IlefsTer17
NM_001281492.1:c.2993_2994dup (MSH6)	NP_001268421.1:p.Cys999IlefsTer17
NM_001281493.1:c.2477_2478dup (MSH6)	NP_001268422.1:p.Cys827IlefsTer17
NM_001281494.1:c.2477_2478dup (MSH6)	NP_001268423.1:p.Cys827IlefsTer17
XM_005264271.1:c.3086_3087dup (MSH6)	XP_005264328.1:p.Cys1030IlefsTer17
XM_011532798.1:c.3200_3201dup (MSH6)	XP_011531100.1:p.Cys1068IlefsTer17
XM_011532799.1:c.3086_3087dup (MSH6)	XP_011531101.1:p.Cys1030IlefsTer17
XM_011532800.1:c.3086_3087dup (MSH6)	XP_011531102.1:p.Cys1030IlefsTer17
XM_024452819.1:c.3383_3384dup (MSH6)	XP_024308587.1:p.Cys1129IlefsTer17
XM_024452820.1:c.3200_3201dup (MSH6)	XP_024308588.1:p.Cys1068IlefsTer17
XM_024452821.1:c.3086_3087dup (MSH6)	XP_024308589.1:p.Cys1030IlefsTer17
XM_024452822.1:c.2477_2478dup (MSH6)	XP_024308590.1:p.Cys827IlefsTer17
NM_000179.3:c.3383_3384dup (MSH6) MANE Select	NP_000170.1:p.Cys1129IlefsTer17
NM_001281492.2:c.2993_2994dup (MSH6)	NP_001268421.1:p.Cys999IlefsTer17
NM_001281493.2:c.2477_2478dup (MSH6)	NP_001268422.1:p.Cys827IlefsTer17
NM_001281494.2:c.2477_2478dup (MSH6)	NP_001268423.1:p.Cys827IlefsTer17