Canonical Allele Identifier: CA071965

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 234123
• ClinVar RCV Id: RCV000218234 ; RCV000590359 ; RCV001068250 ; RCV001356797 ; RCV003463599 ; RCV003998598
• dbSNP Id: rs587779937
• ExAC: 2:48033454 T / TAGA
• gnomAD v2: 2-48033454-T-TAGA
• gnomAD v4: 2-47806315-T-TAGA
• MyVariant Identifiers: chr2:g.48033458_48033460dupAGA (hg19) ; chr2:g.48033457_48033458insAGA (hg19) ; chr2:g.48033454_48033455insAGA (hg19) ; chr2:g.47806319_47806321dupAGA (hg38) ; chr2:g.47806318_47806319insAGA (hg38) ; chr2:g.47806315_47806316insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806319_47806321dup , CM000664.2:g.47806319_47806321dup	GRCh38
NC_000002.11:g.48033458_48033460dup , CM000664.1:g.48033458_48033460dup	GRCh37
NC_000002.10:g.47886962_47886964dup	NCBI36
NG_007111.1:g.28173_28175dup , LRG_219:g.28173_28175dup
NG_008397.1:g.104358_104360dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3465_3467dup (MSH6)	ENSP00000406248.2:p.Glu1155_Asp1156insGlu
ENST00000420813.6:c.3465_3467dup (MSH6)	ENSP00000390382.2:p.Glu1155_Asp1156insGlu
ENST00000455383.6:c.3465_3467dup (MSH6)	ENSP00000397484.2:p.Glu1155_Asp1156insGlu
ENST00000700004.2:c.3378_3380dup (MSH6)	ENSP00000514752.2:p.Glu1126_Asp1127insGlu
ENST00000699999.1:n.4436_4438dup (MSH6)
ENST00000700000.1:c.2196_2198dup (MSH6)	ENSP00000514749.1:p.Glu732_Asp733insGlu
ENST00000700002.1:c.3768_3770dup (MSH6)	ENSP00000514750.1:p.Glu1256_Asp1257insGlu
ENST00000700003.1:c.1217_1219dup (MSH6)	ENSP00000514751.1:n.1217_1219dup
ENST00000700004.1:c.2535_2537dup (MSH6)	ENSP00000514752.1:p.Glu845_Asp846insGlu
ENST00000700005.1:n.2613_2615dup (MSH6)
ENST00000700006.1:n.4920_4922dup (MSH6)
ENST00000700007.1:n.2357_2359dup (MSH6)
ENST00000700008.1:n.1931_1933dup (MSH6)
ENST00000700009.1:n.2426_2428dup (MSH6)
ENST00000700010.1:n.1171_1173dup (MSH6)
ENST00000700011.1:n.3056_3058dup (MSH6)
ENST00000682451.1:n.4430_4432dup (FBXO11)
ENST00000684712.1:n.4692_4694dup (FBXO11)
ENST00000234420.11:c.3762_3764dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu1254_Asp1255insGlu
ENST00000540021.6:c.3372_3374dup (MSH6)	ENSP00000446475.1:p.Glu1124_Asp1125insGlu
ENST00000652107.1:c.3465_3467dup (MSH6)	ENSP00000498629.1:p.Glu1155_Asp1156insGlu
ENST00000673637.1:c.3465_3467dup (MSH6)	ENSP00000501310.1:p.Glu1155_Asp1156insGlu
ENST00000234420.9:c.3762_3764dup (MSH6)	ENSP00000234420.4:p.Glu1254_Asp1255insGlu
ENST00000405808.5:c.169+1877_169+1879dup (FBXO11)	ENSP00000385127.1:n.169+1877_169+1879dup
ENST00000434234.5:c.*124+1676_*124+1678dup (FBXO11)	ENSP00000402692.1:n.*124+1676_*124+1678dup
ENST00000445503.5:c.*3109_*3111dup (MSH6)	ENSP00000405294.1:n.*3109_*3111dup
ENST00000538136.1:c.2856_2858dup (MSH6)	ENSP00000438580.1:p.Glu952_Asp953insGlu
ENST00000540021.5:c.3372_3374dup (MSH6)	ENSP00000446475.1:p.Glu1124_Asp1125insGlu
ENST00000614496.4:c.2856_2858dup (MSH6)	ENSP00000477844.1:p.Glu952_Asp953insGlu
ENST00000622629.4:c.664_666dup (MSH6)	ENSP00000482078.1:p.Arg222_Leu223insArg
NM_000179.2:c.3762_3764dup , LRG_219t1:c.3762_3764dup (MSH6)	NP_000170.1:p.Glu1254_Asp1255insGlu
NM_001281492.1:c.3372_3374dup (MSH6)	NP_001268421.1:p.Glu1124_Asp1125insGlu
NM_001281493.1:c.2856_2858dup (MSH6)	NP_001268422.1:p.Glu952_Asp953insGlu
NM_001281494.1:c.2856_2858dup (MSH6)	NP_001268423.1:p.Glu952_Asp953insGlu
XM_005264271.1:c.3465_3467dup (MSH6)	XP_005264328.1:p.Glu1155_Asp1156insGlu
XM_011532798.1:c.3579_3581dup (MSH6)	XP_011531100.1:p.Glu1193_Asp1194insGlu
XM_011532799.1:c.3465_3467dup (MSH6)	XP_011531101.1:p.Glu1155_Asp1156insGlu
XM_011532800.1:c.3465_3467dup (MSH6)	XP_011531102.1:p.Glu1155_Asp1156insGlu
XM_024452819.1:c.3762_3764dup (MSH6)	XP_024308587.1:p.Glu1254_Asp1255insGlu
XM_024452820.1:c.3579_3581dup (MSH6)	XP_024308588.1:p.Glu1193_Asp1194insGlu
XM_024452821.1:c.3465_3467dup (MSH6)	XP_024308589.1:p.Glu1155_Asp1156insGlu
XM_024452822.1:c.2856_2858dup (MSH6)	XP_024308590.1:p.Glu952_Asp953insGlu
NM_000179.3:c.3762_3764dup (MSH6) MANE Select	NP_000170.1:p.Glu1254_Asp1255insGlu
NM_001281492.2:c.3372_3374dup (MSH6)	NP_001268421.1:p.Glu1124_Asp1125insGlu
NM_001281493.2:c.2856_2858dup (MSH6)	NP_001268422.1:p.Glu952_Asp953insGlu
NM_001281494.2:c.2856_2858dup (MSH6)	NP_001268423.1:p.Glu952_Asp953insGlu