Canonical Allele Identifier: CA348877

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 219946
• ClinVar RCV Id: RCV002517373
• dbSNP Id: rs1553333718
• gnomAD v2: 2-48033757-T-TTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAG
• gnomAD v3: 2-47806618-T-TTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAG
• gnomAD v4: 2-47806618-T-TTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAG
• MyVariant Identifiers: chr2:g.48033758_48033842dup (hg19) ; chr2:g.48033758_48033842dup85 (hg19) ; chr2:g.48033757_48033758insTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAG (hg19) ; chr2:g.47806619_47806703dup (hg38) ; chr2:g.47806619_47806703dup85 (hg38) ; chr2:g.47806618_47806619insTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806619_47806703dup , CM000664.2:g.47806619_47806703dup	GRCh38
NC_000002.11:g.48033758_48033842dup , CM000664.1:g.48033758_48033842dup	GRCh37
NC_000002.10:g.47887262_47887346dup	NCBI36
NG_007111.1:g.28473_28557dup , LRG_219:g.28473_28557dup
NG_008397.1:g.103973_104057dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3672_3704+52dup (MSH6)
ENST00000420813.6:c.3672_3704+52dup (MSH6)
ENST00000455383.6:c.3672_3704+52dup (MSH6)
ENST00000700004.2:c.3585_3617+52dup (MSH6)
ENST00000699999.1:n.4643_4675+52dup (MSH6)
ENST00000700000.1:c.2403_2435+52dup (MSH6)
ENST00000700002.1:c.3975_4007+52dup (MSH6)
ENST00000700003.1:c.1424_1456+52dup (MSH6)
ENST00000700004.1:c.2742_2774+52dup (MSH6)
ENST00000700005.1:n.2820_2904dup (MSH6)
ENST00000700006.1:n.5127_5211dup (MSH6)
ENST00000700007.1:n.2564_2596+52dup (MSH6)
ENST00000700008.1:n.2231_2263+52dup (MSH6)
ENST00000700009.1:n.2633_2665+52dup (MSH6)
ENST00000700010.1:n.1378_1410+52dup (MSH6)
ENST00000700011.1:n.3263_3295+52dup (MSH6)
ENST00000682451.1:n.4045_4129dup (FBXO11)
ENST00000684712.1:n.4307_4391dup (FBXO11)
ENST00000234420.11:c.3969_4001+52dup (MSH6)
ENST00000540021.6:c.3579_3611+52dup (MSH6)
ENST00000652107.1:c.3672_3704+52dup (MSH6)
ENST00000673637.1:c.3672_3704+52dup (MSH6)
ENST00000234420.9:c.3969_4001+52dup (MSH6)
ENST00000405808.5:c.169+1492_169+1576dup (FBXO11)	ENSP00000385127.1:n.169+1492_169+1576dup
ENST00000434234.5:c.*124+1291_*124+1375dup (FBXO11)	ENSP00000402692.1:n.*124+1291_*124+1375du...
ENST00000445503.5:c.*3316_*3348+52dup (MSH6)
ENST00000538136.1:c.3063_3095+52dup (MSH6)
ENST00000540021.5:c.3579_3611+52dup (MSH6)
ENST00000614496.4:c.3063_3095+52dup (MSH6)
ENST00000622629.4:c.870_902+52dup (MSH6)
NM_000179.2:c.3969_4001+52dup , LRG_219t1:c.3969_4001+52dup (MSH6)
NM_001281492.1:c.3579_3611+52dup (MSH6)
NM_001281493.1:c.3063_3095+52dup (MSH6)
NM_001281494.1:c.3063_3095+52dup (MSH6)
XM_005264271.1:c.3672_3704+52dup (MSH6)
XM_011532798.1:c.3786_3818+52dup (MSH6)
XM_011532799.1:c.3672_3704+52dup (MSH6)
XM_011532800.1:c.3672_3704+52dup (MSH6)
XM_024452819.1:c.4062_4094+52dup (MSH6)
XM_024452820.1:c.3879_3911+52dup (MSH6)
XM_024452821.1:c.3765_3797+52dup (MSH6)
XM_024452822.1:c.3156_3188+52dup (MSH6)
NM_000179.3:c.3969_4001+52dup (MSH6)
NM_001281492.2:c.3579_3611+52dup (MSH6)
NM_001281493.2:c.3063_3095+52dup (MSH6)
NM_001281494.2:c.3063_3095+52dup (MSH6)