Canonical Allele Identifier: CA913188048

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 663057
• ClinVar RCV Id: RCV000820841 ; RCV001185050
• dbSNP Id: rs1572747475
• gnomAD v4: 2-47806585-T-TTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806586_47806659dup , CM000664.2:g.47806586_47806659dup	GRCh38
NC_000002.11:g.48033725_48033798dup , CM000664.1:g.48033725_48033798dup	GRCh37
NC_000002.10:g.47887229_47887302dup	NCBI36
NG_007111.1:g.28440_28513dup , LRG_219:g.28440_28513dup
NG_008397.1:g.104017_104090dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3639_3704+8dup (MSH6)
ENST00000420813.6:c.3639_3704+8dup (MSH6)
ENST00000455383.6:c.3639_3704+8dup (MSH6)
ENST00000700004.2:c.3552_3617+8dup (MSH6)
ENST00000699999.1:n.4610_4675+8dup (MSH6)
ENST00000700000.1:c.2370_2435+8dup (MSH6)
ENST00000700002.1:c.3942_4007+8dup (MSH6)
ENST00000700003.1:c.1391_1456+8dup (MSH6)
ENST00000700004.1:c.2709_2774+8dup (MSH6)
ENST00000700005.1:n.2787_2860dup (MSH6)
ENST00000700006.1:n.5094_5167dup (MSH6)
ENST00000700007.1:n.2531_2596+8dup (MSH6)
ENST00000700008.1:n.2198_2263+8dup (MSH6)
ENST00000700009.1:n.2600_2665+8dup (MSH6)
ENST00000700010.1:n.1345_1410+8dup (MSH6)
ENST00000700011.1:n.3230_3295+8dup (MSH6)
ENST00000682451.1:n.4089_4162dup (FBXO11)
ENST00000684712.1:n.4351_4424dup (FBXO11)
ENST00000234420.11:c.3936_4001+8dup (MSH6)
ENST00000540021.6:c.3546_3611+8dup (MSH6)
ENST00000652107.1:c.3639_3704+8dup (MSH6)
ENST00000673637.1:c.3639_3704+8dup (MSH6)
ENST00000234420.9:c.3936_4001+8dup (MSH6)
ENST00000405808.5:c.169+1536_169+1609dup (FBXO11)	ENSP00000385127.1:n.169+1536_169+1609dup
ENST00000434234.5:c.*124+1335_*124+1408dup (FBXO11)	ENSP00000402692.1:n.*124+1335_*124+1408du...
ENST00000445503.5:c.*3283_*3348+8dup (MSH6)
ENST00000538136.1:c.3030_3095+8dup (MSH6)
ENST00000540021.5:c.3546_3611+8dup (MSH6)
ENST00000614496.4:c.3030_3095+8dup (MSH6)
ENST00000622629.4:c.837_902+8dup (MSH6)
NM_000179.2:c.3936_4001+8dup , LRG_219t1:c.3936_4001+8dup (MSH6)
NM_001281492.1:c.3546_3611+8dup (MSH6)
NM_001281493.1:c.3030_3095+8dup (MSH6)
NM_001281494.1:c.3030_3095+8dup (MSH6)
XM_005264271.1:c.3639_3704+8dup (MSH6)
XM_011532798.1:c.3753_3818+8dup (MSH6)
XM_011532799.1:c.3639_3704+8dup (MSH6)
XM_011532800.1:c.3639_3704+8dup (MSH6)
XM_024452819.1:c.4029_4094+8dup (MSH6)
XM_024452820.1:c.3846_3911+8dup (MSH6)
XM_024452821.1:c.3732_3797+8dup (MSH6)
XM_024452822.1:c.3123_3188+8dup (MSH6)
NM_000179.3:c.3936_4001+8dup (MSH6)
NM_001281492.2:c.3546_3611+8dup (MSH6)
NM_001281493.2:c.3030_3095+8dup (MSH6)
NM_001281494.2:c.3030_3095+8dup (MSH6)