Canonical Allele Identifier: CA915943991

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 824493
• ClinVar RCV Id: RCV001021642 ; RCV002473166 ; RCV001862192
• dbSNP Id: rs1572749857
• gnomAD v4: 2-47806777-A-AGGGAAGTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806778_47806787dup , CM000664.2:g.47806778_47806787dup	GRCh38
NC_000002.11:g.48033917_48033926dup , CM000664.1:g.48033917_48033926dup	GRCh37
NC_000002.10:g.47887421_47887430dup	NCBI36
NG_007111.1:g.28632_28641dup , LRG_219:g.28632_28641dup
NG_008397.1:g.103889_103898dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3705-1_3713dup (MSH6)
ENST00000420813.6:c.3705-1_3713dup (MSH6)
ENST00000455383.6:c.3705-1_3713dup (MSH6)
ENST00000700004.2:c.3618-1_3626dup (MSH6)
ENST00000699999.1:n.4676-1_4684dup (MSH6)
ENST00000700000.1:c.2436-1_2444dup (MSH6)
ENST00000700002.1:c.4008-1_4016dup (MSH6)
ENST00000700003.1:c.1457-1_1465dup (MSH6)
ENST00000700004.1:c.2775-1_2783dup (MSH6)
ENST00000700005.1:n.2979_2988dup (MSH6)
ENST00000700007.1:n.2597-1_2605dup (MSH6)
ENST00000700008.1:n.2264-1_2272dup (MSH6)
ENST00000700009.1:n.2666-1_2674dup (MSH6)
ENST00000700010.1:n.1411-1_1419dup (MSH6)
ENST00000700011.1:n.3296-1_3304dup (MSH6)
ENST00000682451.1:n.3961_3970dup (FBXO11)
ENST00000684712.1:n.4223_4232dup (FBXO11)
ENST00000234420.11:c.4002-1_4010dup (MSH6)
ENST00000540021.6:c.3612-1_3620dup (MSH6)
ENST00000652107.1:c.3705-1_3713dup (MSH6)
ENST00000673637.1:c.3705-1_3713dup (MSH6)
ENST00000234420.9:c.4002-1_4010dup (MSH6)
ENST00000405808.5:c.169+1408_169+1417dup (FBXO11)	ENSP00000385127.1:n.169+1408_169+1417dup
ENST00000434234.5:c.*124+1207_*124+1216dup (FBXO11)	ENSP00000402692.1:n.*124+1207_*124+1216dup
ENST00000445503.5:c.*3349-1_*3357dup (MSH6)
ENST00000465204.5:n.3123_3132dup (FBXO11)
ENST00000538136.1:c.3096-1_3104dup (MSH6)
ENST00000540021.5:c.3612-1_3620dup (MSH6)
ENST00000614496.4:c.3096-1_3104dup (MSH6)
ENST00000622629.4:c.903-1_911dup (MSH6)
NM_000179.2:c.4002-1_4010dup , LRG_219t1:c.4002-1_4010dup (MSH6)
NM_001281492.1:c.3612-1_3620dup (MSH6)
NM_001281493.1:c.3096-1_3104dup (MSH6)
NM_001281494.1:c.3096-1_3104dup (MSH6)
XM_005264271.1:c.3705-1_3713dup (MSH6)
XM_011532798.1:c.3819-1_3827dup (MSH6)
XM_011532799.1:c.3705-1_3713dup (MSH6)
XM_011532800.1:c.3705-1_3713dup (MSH6)
XM_024452819.1:c.4095-1_4103dup (MSH6)
XM_024452820.1:c.3912-1_3920dup (MSH6)
XM_024452821.1:c.3798-1_3806dup (MSH6)
XM_024452822.1:c.3189-1_3197dup (MSH6)
NM_000179.3:c.4002-1_4010dup (MSH6)
NM_001281492.2:c.3612-1_3620dup (MSH6)
NM_001281493.2:c.3096-1_3104dup (MSH6)
NM_001281494.2:c.3096-1_3104dup (MSH6)