Canonical Allele Identifier: CA915943966

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 824173
• ClinVar RCV Id: RCV001021075 ; RCV001384168
• dbSNP Id: rs1572745084

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806318_47806321dup , CM000664.2:g.47806318_47806321dup	GRCh38
NC_000002.11:g.48033457_48033460dup , CM000664.1:g.48033457_48033460dup	GRCh37
NC_000002.10:g.47886961_47886964dup	NCBI36
NG_007111.1:g.28172_28175dup , LRG_219:g.28172_28175dup
NG_008397.1:g.104355_104358dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3464_3467dup (MSH6)	ENSP00000406248.2:p.Asp1156GlufsTer21
ENST00000420813.6:c.3464_3467dup (MSH6)	ENSP00000390382.2:p.Asp1156GlufsTer21
ENST00000455383.6:c.3464_3467dup (MSH6)	ENSP00000397484.2:p.Asp1156GlufsTer21
ENST00000700004.2:c.3377_3380dup (MSH6)	ENSP00000514752.2:p.Asp1127GlufsTer21
ENST00000699999.1:n.4435_4438dup (MSH6)
ENST00000700000.1:c.2195_2198dup (MSH6)	ENSP00000514749.1:p.Asp733GlufsTer21
ENST00000700002.1:c.3767_3770dup (MSH6)	ENSP00000514750.1:p.Asp1257GlufsTer21
ENST00000700003.1:c.1216_1219dup (MSH6)	ENSP00000514751.1:n.1216_1219dup
ENST00000700004.1:c.2534_2537dup (MSH6)	ENSP00000514752.1:p.Asp846GlufsTer21
ENST00000700005.1:n.2612_2615dup (MSH6)
ENST00000700006.1:n.4919_4922dup (MSH6)
ENST00000700007.1:n.2356_2359dup (MSH6)
ENST00000700008.1:n.1930_1933dup (MSH6)
ENST00000700009.1:n.2425_2428dup (MSH6)
ENST00000700010.1:n.1170_1173dup (MSH6)
ENST00000700011.1:n.3055_3058dup (MSH6)
ENST00000682451.1:n.4427_4430dup (FBXO11)
ENST00000684712.1:n.4689_4692dup (FBXO11)
ENST00000234420.11:c.3761_3764dup (MSH6) MANE Select	ENSP00000234420.5:p.Asp1255GlufsTer21
ENST00000540021.6:c.3371_3374dup (MSH6)	ENSP00000446475.1:p.Asp1125GlufsTer21
ENST00000652107.1:c.3464_3467dup (MSH6)	ENSP00000498629.1:p.Asp1156GlufsTer21
ENST00000673637.1:c.3464_3467dup (MSH6)	ENSP00000501310.1:p.Asp1156GlufsTer21
ENST00000234420.9:c.3761_3764dup (MSH6)	ENSP00000234420.4:p.Asp1255GlufsTer21
ENST00000405808.5:c.169+1874_169+1877dup (FBXO11)	ENSP00000385127.1:n.169+1874_169+1877dup
ENST00000434234.5:c.*124+1673_*124+1676dup (FBXO11)	ENSP00000402692.1:n.*124+1673_*124+1676dup
ENST00000445503.5:c.*3108_*3111dup (MSH6)	ENSP00000405294.1:n.*3108_*3111dup
ENST00000538136.1:c.2855_2858dup (MSH6)	ENSP00000438580.1:p.Asp953GlufsTer21
ENST00000540021.5:c.3371_3374dup (MSH6)	ENSP00000446475.1:p.Asp1125GlufsTer21
ENST00000614496.4:c.2855_2858dup (MSH6)	ENSP00000477844.1:p.Asp953GlufsTer21
ENST00000622629.4:c.663_666dup (MSH6)	ENSP00000482078.1:p.Leu223LysfsTer20
NM_000179.2:c.3761_3764dup , LRG_219t1:c.3761_3764dup (MSH6)	NP_000170.1:p.Asp1255GlufsTer21
NM_001281492.1:c.3371_3374dup (MSH6)	NP_001268421.1:p.Asp1125GlufsTer21
NM_001281493.1:c.2855_2858dup (MSH6)	NP_001268422.1:p.Asp953GlufsTer21
NM_001281494.1:c.2855_2858dup (MSH6)	NP_001268423.1:p.Asp953GlufsTer21
XM_005264271.1:c.3464_3467dup (MSH6)	XP_005264328.1:p.Asp1156GlufsTer21
XM_011532798.1:c.3578_3581dup (MSH6)	XP_011531100.1:p.Asp1194GlufsTer21
XM_011532799.1:c.3464_3467dup (MSH6)	XP_011531101.1:p.Asp1156GlufsTer21
XM_011532800.1:c.3464_3467dup (MSH6)	XP_011531102.1:p.Asp1156GlufsTer21
XM_024452819.1:c.3761_3764dup (MSH6)	XP_024308587.1:p.Asp1255GlufsTer28
XM_024452820.1:c.3578_3581dup (MSH6)	XP_024308588.1:p.Asp1194GlufsTer28
XM_024452821.1:c.3464_3467dup (MSH6)	XP_024308589.1:p.Asp1156GlufsTer28
XM_024452822.1:c.2855_2858dup (MSH6)	XP_024308590.1:p.Asp953GlufsTer28
NM_000179.3:c.3761_3764dup (MSH6) MANE Select	NP_000170.1:p.Asp1255GlufsTer21
NM_001281492.2:c.3371_3374dup (MSH6)	NP_001268421.1:p.Asp1125GlufsTer21
NM_001281493.2:c.2855_2858dup (MSH6)	NP_001268422.1:p.Asp953GlufsTer21
NM_001281494.2:c.2855_2858dup (MSH6)	NP_001268423.1:p.Asp953GlufsTer21