Canonical Allele Identifier: CA16617704

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 423124
• ClinVar RCV Id: RCV000483635 ; RCV000547773 ; RCV001020696
• dbSNP Id: rs1064796248
• MyVariant Identifiers: chr2:g.48032803_48032805dupCAT (hg19) ; chr2:g.47805664_47805666dupCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805664_47805666dup , CM000664.2:g.47805664_47805666dup	GRCh38
NC_000002.11:g.48032803_48032805dup , CM000664.1:g.48032803_48032805dup	GRCh37
NC_000002.10:g.47886307_47886309dup	NCBI36
NG_007111.1:g.27518_27520dup , LRG_219:g.27518_27520dup
NG_008397.1:g.105011_105013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3306_3308dup (MSH6)	ENSP00000406248.2:p.Leu1102_Met1103insIle
ENST00000420813.6:c.3306_3308dup (MSH6)	ENSP00000390382.2:p.Leu1102_Met1103insIle
ENST00000455383.6:c.3306_3308dup (MSH6)	ENSP00000397484.2:p.Leu1102_Met1103insIle
ENST00000700004.2:c.3219_3221dup (MSH6)	ENSP00000514752.2:p.Leu1073_Met1074insIle
ENST00000699999.1:n.4277_4279dup (MSH6)
ENST00000700000.1:c.2037_2039dup (MSH6)	ENSP00000514749.1:p.Leu679_Met680insIle
ENST00000700002.1:c.3609_3611dup (MSH6)	ENSP00000514750.1:p.Leu1203_Met1204insIle
ENST00000700003.1:c.1058_1060dup (MSH6)	ENSP00000514751.1:n.1058_1060dup
ENST00000700004.1:c.2376_2378dup (MSH6)	ENSP00000514752.1:p.Leu792_Met793insIle
ENST00000700005.1:n.2454_2456dup (MSH6)
ENST00000700006.1:n.4265_4267dup (MSH6)
ENST00000700007.1:n.2198_2200dup (MSH6)
ENST00000700008.1:n.1772_1774dup (MSH6)
ENST00000700009.1:n.1771_1773dup (MSH6)
ENST00000700010.1:n.1012_1014dup (MSH6)
ENST00000700011.1:n.2897_2899dup (MSH6)
ENST00000234420.11:c.3603_3605dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu1201_Met1202insIle
ENST00000540021.6:c.3213_3215dup (MSH6)	ENSP00000446475.1:p.Leu1071_Met1072insIle
ENST00000652107.1:c.3306_3308dup (MSH6)	ENSP00000498629.1:p.Leu1102_Met1103insIle
ENST00000673637.1:c.3306_3308dup (MSH6)	ENSP00000501310.1:p.Leu1102_Met1103insIle
ENST00000234420.9:c.3603_3605dup (MSH6)	ENSP00000234420.4:p.Leu1201_Met1202insIle
ENST00000405808.5:c.169+2530_169+2532dup (FBXO11)	ENSP00000385127.1:n.169+2530_169+2532dup
ENST00000434234.5:c.*124+2329_*124+2331dup (FBXO11)	ENSP00000402692.1:n.*124+2329_*124+2331dup
ENST00000445503.5:c.*2950_*2952dup (MSH6)	ENSP00000405294.1:n.*2950_*2952dup
ENST00000538136.1:c.2697_2699dup (MSH6)	ENSP00000438580.1:p.Leu899_Met900insIle
ENST00000540021.5:c.3213_3215dup (MSH6)	ENSP00000446475.1:p.Leu1071_Met1072insIle
ENST00000614496.4:c.2697_2699dup (MSH6)	ENSP00000477844.1:p.Leu899_Met900insIle
ENST00000622629.4:c.507_509dup (MSH6)	ENSP00000482078.1:p.Leu169_Met170insIle
NM_000179.2:c.3603_3605dup , LRG_219t1:c.3603_3605dup (MSH6)	NP_000170.1:p.Leu1201_Met1202insIle
NM_001281492.1:c.3213_3215dup (MSH6)	NP_001268421.1:p.Leu1071_Met1072insIle
NM_001281493.1:c.2697_2699dup (MSH6)	NP_001268422.1:p.Leu899_Met900insIle
NM_001281494.1:c.2697_2699dup (MSH6)	NP_001268423.1:p.Leu899_Met900insIle
XM_005264271.1:c.3306_3308dup (MSH6)	XP_005264328.1:p.Leu1102_Met1103insIle
XM_011532798.1:c.3420_3422dup (MSH6)	XP_011531100.1:p.Leu1140_Met1141insIle
XM_011532799.1:c.3306_3308dup (MSH6)	XP_011531101.1:p.Leu1102_Met1103insIle
XM_011532800.1:c.3306_3308dup (MSH6)	XP_011531102.1:p.Leu1102_Met1103insIle
XM_024452819.1:c.3603_3605dup (MSH6)	XP_024308587.1:p.Leu1201_Met1202insIle
XM_024452820.1:c.3420_3422dup (MSH6)	XP_024308588.1:p.Leu1140_Met1141insIle
XM_024452821.1:c.3306_3308dup (MSH6)	XP_024308589.1:p.Leu1102_Met1103insIle
XM_024452822.1:c.2697_2699dup (MSH6)	XP_024308590.1:p.Leu899_Met900insIle
NM_000179.3:c.3603_3605dup (MSH6) MANE Select	NP_000170.1:p.Leu1201_Met1202insIle
NM_001281492.2:c.3213_3215dup (MSH6)	NP_001268421.1:p.Leu1071_Met1072insIle
NM_001281493.2:c.2697_2699dup (MSH6)	NP_001268422.1:p.Leu899_Met900insIle
NM_001281494.2:c.2697_2699dup (MSH6)	NP_001268423.1:p.Leu899_Met900insIle