Canonical Allele Identifier: CA891843276

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 584622
• ClinVar RCV Id: RCV000708891 ; RCV003353003 ; RCV001861936
• dbSNP Id: rs1558390840
• gnomAD v4: 2-47805671-G-GCAA
• MyVariant Identifiers: chr2:g.48032811_48032813dupCAA (hg19) ; chr2:g.47805672_47805674dupCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805674_47805676dup , CM000664.2:g.47805674_47805676dup	GRCh38
NC_000002.11:g.48032813_48032815dup , CM000664.1:g.48032813_48032815dup	GRCh37
NC_000002.10:g.47886317_47886319dup	NCBI36
NG_007111.1:g.27528_27530dup , LRG_219:g.27528_27530dup
NG_008397.1:g.105002_105004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3316_3318dup (MSH6)	ENSP00000406248.2:p.Thr1106_Ala1107insThr
ENST00000420813.6:c.3316_3318dup (MSH6)	ENSP00000390382.2:p.Thr1106_Ala1107insThr
ENST00000455383.6:c.3316_3318dup (MSH6)	ENSP00000397484.2:p.Thr1106_Ala1107insThr
ENST00000700004.2:c.3229_3231dup (MSH6)	ENSP00000514752.2:p.Thr1077_Ala1078insThr
ENST00000699999.1:n.4287_4289dup (MSH6)
ENST00000700000.1:c.2047_2049dup (MSH6)	ENSP00000514749.1:p.Thr683_Ala684insThr
ENST00000700002.1:c.3619_3621dup (MSH6)	ENSP00000514750.1:p.Thr1207_Ala1208insThr
ENST00000700003.1:c.1068_1070dup (MSH6)	ENSP00000514751.1:n.1068_1070dup
ENST00000700004.1:c.2386_2388dup (MSH6)	ENSP00000514752.1:p.Thr796_Ala797insThr
ENST00000700005.1:n.2464_2466dup (MSH6)
ENST00000700006.1:n.4275_4277dup (MSH6)
ENST00000700007.1:n.2208_2210dup (MSH6)
ENST00000700008.1:n.1782_1784dup (MSH6)
ENST00000700009.1:n.1781_1783dup (MSH6)
ENST00000700010.1:n.1022_1024dup (MSH6)
ENST00000700011.1:n.2907_2909dup (MSH6)
ENST00000234420.11:c.3613_3615dup (MSH6) MANE Select	ENSP00000234420.5:p.Thr1205_Ala1206insThr
ENST00000540021.6:c.3223_3225dup (MSH6)	ENSP00000446475.1:p.Thr1075_Ala1076insThr
ENST00000652107.1:c.3316_3318dup (MSH6)	ENSP00000498629.1:p.Thr1106_Ala1107insThr
ENST00000673637.1:c.3316_3318dup (MSH6)	ENSP00000501310.1:p.Thr1106_Ala1107insThr
ENST00000234420.9:c.3613_3615dup (MSH6)	ENSP00000234420.4:p.Thr1205_Ala1206insThr
ENST00000405808.5:c.169+2521_169+2523dup (FBXO11)	ENSP00000385127.1:n.169+2521_169+2523dup
ENST00000434234.5:c.*124+2320_*124+2322dup (FBXO11)	ENSP00000402692.1:n.*124+2320_*124+2322dup
ENST00000445503.5:c.*2960_*2962dup (MSH6)	ENSP00000405294.1:n.*2960_*2962dup
ENST00000538136.1:c.2707_2709dup (MSH6)	ENSP00000438580.1:p.Thr903_Ala904insThr
ENST00000540021.5:c.3223_3225dup (MSH6)	ENSP00000446475.1:p.Thr1075_Ala1076insThr
ENST00000614496.4:c.2707_2709dup (MSH6)	ENSP00000477844.1:p.Thr903_Ala904insThr
ENST00000622629.4:c.517_519dup (MSH6)	ENSP00000482078.1:p.Thr173_Ala174insThr
NM_000179.2:c.3613_3615dup , LRG_219t1:c.3613_3615dup (MSH6)	NP_000170.1:p.Thr1205_Ala1206insThr
NM_001281492.1:c.3223_3225dup (MSH6)	NP_001268421.1:p.Thr1075_Ala1076insThr
NM_001281493.1:c.2707_2709dup (MSH6)	NP_001268422.1:p.Thr903_Ala904insThr
NM_001281494.1:c.2707_2709dup (MSH6)	NP_001268423.1:p.Thr903_Ala904insThr
XM_005264271.1:c.3316_3318dup (MSH6)	XP_005264328.1:p.Thr1106_Ala1107insThr
XM_011532798.1:c.3430_3432dup (MSH6)	XP_011531100.1:p.Thr1144_Ala1145insThr
XM_011532799.1:c.3316_3318dup (MSH6)	XP_011531101.1:p.Thr1106_Ala1107insThr
XM_011532800.1:c.3316_3318dup (MSH6)	XP_011531102.1:p.Thr1106_Ala1107insThr
XM_024452819.1:c.3613_3615dup (MSH6)	XP_024308587.1:p.Thr1205_Ala1206insThr
XM_024452820.1:c.3430_3432dup (MSH6)	XP_024308588.1:p.Thr1144_Ala1145insThr
XM_024452821.1:c.3316_3318dup (MSH6)	XP_024308589.1:p.Thr1106_Ala1107insThr
XM_024452822.1:c.2707_2709dup (MSH6)	XP_024308590.1:p.Thr903_Ala904insThr
NM_000179.3:c.3613_3615dup (MSH6) MANE Select	NP_000170.1:p.Thr1205_Ala1206insThr
NM_001281492.2:c.3223_3225dup (MSH6)	NP_001268421.1:p.Thr1075_Ala1076insThr
NM_001281493.2:c.2707_2709dup (MSH6)	NP_001268422.1:p.Thr903_Ala904insThr
NM_001281494.2:c.2707_2709dup (MSH6)	NP_001268423.1:p.Thr903_Ala904insThr