Canonical Allele Identifier: CA645369301

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428292
• ClinVar RCV Id: RCV000491792 ; RCV003139694
• dbSNP Id: rs193922343
• MyVariant Identifiers: chr2:g.48033394_48033398dup (hg19) ; chr2:g.48033398_48033399insAAGAA (hg19) ; chr2:g.47806255_47806259dup (hg38) ; chr2:g.47806259_47806260insAAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806255_47806259dup , CM000664.2:g.47806255_47806259dup	GRCh38
NC_000002.11:g.48033394_48033398dup , CM000664.1:g.48033394_48033398dup	GRCh37
NC_000002.10:g.47886898_47886902dup	NCBI36
NG_007111.1:g.28109_28113dup , LRG_219:g.28109_28113dup
NG_008397.1:g.104418_104422dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3401_3405dup (MSH6)	ENSP00000406248.2:p.Leu1136LysfsTer7
ENST00000420813.6:c.3401_3405dup (MSH6)	ENSP00000390382.2:p.Leu1136LysfsTer7
ENST00000455383.6:c.3401_3405dup (MSH6)	ENSP00000397484.2:p.Leu1136LysfsTer7
ENST00000700004.2:c.3314_3318dup (MSH6)	ENSP00000514752.2:p.Leu1107LysfsTer7
ENST00000699999.1:n.4372_4376dup (MSH6)
ENST00000700000.1:c.2132_2136dup (MSH6)	ENSP00000514749.1:p.Leu713LysfsTer7
ENST00000700002.1:c.3704_3708dup (MSH6)	ENSP00000514750.1:p.Leu1237LysfsTer7
ENST00000700003.1:c.1153_1157dup (MSH6)	ENSP00000514751.1:n.1153_1157dup
ENST00000700004.1:c.2471_2475dup (MSH6)	ENSP00000514752.1:p.Leu826LysfsTer7
ENST00000700005.1:n.2549_2553dup (MSH6)
ENST00000700006.1:n.4856_4860dup (MSH6)
ENST00000700007.1:n.2293_2297dup (MSH6)
ENST00000700008.1:n.1867_1871dup (MSH6)
ENST00000700009.1:n.2362_2366dup (MSH6)
ENST00000700010.1:n.1107_1111dup (MSH6)
ENST00000700011.1:n.2992_2996dup (MSH6)
ENST00000682451.1:n.4490_4494dup (FBXO11)
ENST00000684712.1:n.4752_4756dup (FBXO11)
ENST00000234420.11:c.3698_3702dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu1235LysfsTer7
ENST00000540021.6:c.3308_3312dup (MSH6)	ENSP00000446475.1:p.Leu1105LysfsTer7
ENST00000652107.1:c.3401_3405dup (MSH6)	ENSP00000498629.1:p.Leu1136LysfsTer7
ENST00000673637.1:c.3401_3405dup (MSH6)	ENSP00000501310.1:p.Leu1136LysfsTer7
ENST00000234420.9:c.3698_3702dup (MSH6)	ENSP00000234420.4:p.Leu1235LysfsTer7
ENST00000405808.5:c.169+1937_169+1941dup (FBXO11)	ENSP00000385127.1:n.169+1937_169+1941dup
ENST00000434234.5:c.*124+1736_*124+1740dup (FBXO11)	ENSP00000402692.1:n.*124+1736_*124+1740du...
ENST00000445503.5:c.*3045_*3049dup (MSH6)	ENSP00000405294.1:n.*3045_*3049dup
ENST00000538136.1:c.2792_2796dup (MSH6)	ENSP00000438580.1:p.Leu933LysfsTer7
ENST00000540021.5:c.3308_3312dup (MSH6)	ENSP00000446475.1:p.Leu1105LysfsTer7
ENST00000614496.4:c.2792_2796dup (MSH6)	ENSP00000477844.1:p.Leu933LysfsTer7
ENST00000622629.4:c.602_606dup (MSH6)	ENSP00000482078.1:p.Leu203LysfsTer7
NM_000179.2:c.3698_3702dup , LRG_219t1:c.3698_3702dup (MSH6)	NP_000170.1:p.Leu1235LysfsTer7
NM_001281492.1:c.3308_3312dup (MSH6)	NP_001268421.1:p.Leu1105LysfsTer7
NM_001281493.1:c.2792_2796dup (MSH6)	NP_001268422.1:p.Leu933LysfsTer7
NM_001281494.1:c.2792_2796dup (MSH6)	NP_001268423.1:p.Leu933LysfsTer7
XM_005264271.1:c.3401_3405dup (MSH6)	XP_005264328.1:p.Leu1136LysfsTer7
XM_011532798.1:c.3515_3519dup (MSH6)	XP_011531100.1:p.Leu1174LysfsTer7
XM_011532799.1:c.3401_3405dup (MSH6)	XP_011531101.1:p.Leu1136LysfsTer7
XM_011532800.1:c.3401_3405dup (MSH6)	XP_011531102.1:p.Leu1136LysfsTer7
XM_024452819.1:c.3698_3702dup (MSH6)	XP_024308587.1:p.Leu1235LysfsTer7
XM_024452820.1:c.3515_3519dup (MSH6)	XP_024308588.1:p.Leu1174LysfsTer7
XM_024452821.1:c.3401_3405dup (MSH6)	XP_024308589.1:p.Leu1136LysfsTer7
XM_024452822.1:c.2792_2796dup (MSH6)	XP_024308590.1:p.Leu933LysfsTer7
NM_000179.3:c.3698_3702dup (MSH6) MANE Select	NP_000170.1:p.Leu1235LysfsTer7
NM_001281492.2:c.3308_3312dup (MSH6)	NP_001268421.1:p.Leu1105LysfsTer7
NM_001281493.2:c.2792_2796dup (MSH6)	NP_001268422.1:p.Leu933LysfsTer7
NM_001281494.2:c.2792_2796dup (MSH6)	NP_001268423.1:p.Leu933LysfsTer7