Canonical Allele Identifier: CA769466540

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1271339184
• gnomAD v3: 2-47806390-GGTT-G
• gnomAD v4: 2-47806390-GGTT-G
• MyVariant Identifiers: chr2:g.48033530_48033532del (hg19) ; chr2:g.47806391_47806393del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806391_47806393del , CM000664.2:g.47806391_47806393del	GRCh38
NC_000002.11:g.48033530_48033532del , CM000664.1:g.48033530_48033532del	GRCh37
NC_000002.10:g.47887034_47887036del	NCBI36
NG_007111.1:g.28245_28247del , LRG_219:g.28245_28247del
NG_008397.1:g.104283_104285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3504+33_3504+35del (MSH6)	ENSP00000406248.2:n.3504+33_3504+35del
ENST00000420813.6:c.3504+33_3504+35del (MSH6)	ENSP00000390382.2:n.3504+33_3504+35del
ENST00000455383.6:c.3504+33_3504+35del (MSH6)	ENSP00000397484.2:n.3504+33_3504+35del
ENST00000700004.2:c.3417+33_3417+35del (MSH6)	ENSP00000514752.2:n.3417+33_3417+35del
ENST00000699999.1:n.4475+33_4475+35del (MSH6)
ENST00000700000.1:c.2235+33_2235+35del (MSH6)	ENSP00000514749.1:n.2235+33_2235+35del
ENST00000700002.1:c.3807+33_3807+35del (MSH6)	ENSP00000514750.1:n.3807+33_3807+35del
ENST00000700003.1:c.1256+33_1256+35del (MSH6)	ENSP00000514751.1:n.1256+33_1256+35del
ENST00000700004.1:c.2574+33_2574+35del (MSH6)	ENSP00000514752.1:n.2574+33_2574+35del
ENST00000700005.1:n.2652+33_2652+35del (MSH6)
ENST00000700006.1:n.4959+33_4959+35del (MSH6)
ENST00000700007.1:n.2396+33_2396+35del (MSH6)
ENST00000700008.1:n.2003_2005del (MSH6)
ENST00000700009.1:n.2465+33_2465+35del (MSH6)
ENST00000700010.1:n.1210+33_1210+35del (MSH6)
ENST00000700011.1:n.3095+33_3095+35del (MSH6)
ENST00000682451.1:n.4355_4357del (FBXO11)
ENST00000684712.1:n.4617_4619del (FBXO11)
ENST00000234420.11:c.3801+33_3801+35del (MSH6) MANE Select	ENSP00000234420.5:n.3801+33_3801+35del
ENST00000540021.6:c.3411+33_3411+35del (MSH6)	ENSP00000446475.1:n.3411+33_3411+35del
ENST00000652107.1:c.3504+33_3504+35del (MSH6)	ENSP00000498629.1:n.3504+33_3504+35del
ENST00000673637.1:c.3504+33_3504+35del (MSH6)	ENSP00000501310.1:n.3504+33_3504+35del
ENST00000234420.9:c.3801+33_3801+35del (MSH6)	ENSP00000234420.4:n.3801+33_3801+35del
ENST00000405808.5:c.169+1802_169+1804del (FBXO11)	ENSP00000385127.1:n.169+1802_169+1804del
ENST00000434234.5:c.*124+1601_*124+1603del (FBXO11)	ENSP00000402692.1:n.*124+1601_*124+1603del
ENST00000445503.5:c.*3148+33_*3148+35del (MSH6)	ENSP00000405294.1:n.*3148+33_*3148+35del
ENST00000538136.1:c.2895+33_2895+35del (MSH6)	ENSP00000438580.1:n.2895+33_2895+35del
ENST00000540021.5:c.3411+33_3411+35del (MSH6)	ENSP00000446475.1:n.3411+33_3411+35del
ENST00000614496.4:c.2895+33_2895+35del (MSH6)	ENSP00000477844.1:n.2895+33_2895+35del
ENST00000622629.4:c.702+33_702+35del (MSH6)	ENSP00000482078.1:n.702+33_702+35del
NM_000179.2:c.3801+33_3801+35del , LRG_219t1:c.3801+33_3801+35del (MSH6)	NP_000170.1:n.3801+33_3801+35del
NM_001281492.1:c.3411+33_3411+35del (MSH6)	NP_001268421.1:n.3411+33_3411+35del
NM_001281493.1:c.2895+33_2895+35del (MSH6)	NP_001268422.1:n.2895+33_2895+35del
NM_001281494.1:c.2895+33_2895+35del (MSH6)	NP_001268423.1:n.2895+33_2895+35del
XM_005264271.1:c.3504+33_3504+35del (MSH6)	XP_005264328.1:n.3504+33_3504+35del
XM_011532798.1:c.3618+33_3618+35del (MSH6)	XP_011531100.1:n.3618+33_3618+35del
XM_011532799.1:c.3504+33_3504+35del (MSH6)	XP_011531101.1:n.3504+33_3504+35del
XM_011532800.1:c.3504+33_3504+35del (MSH6)	XP_011531102.1:n.3504+33_3504+35del
XM_024452819.1:c.3834_3836del (MSH6)	XP_024308587.1:p.Phe1279del
XM_024452820.1:c.3651_3653del (MSH6)	XP_024308588.1:p.Phe1218del
XM_024452821.1:c.3537_3539del (MSH6)	XP_024308589.1:p.Phe1180del
XM_024452822.1:c.2928_2930del (MSH6)	XP_024308590.1:p.Phe977del
NM_000179.3:c.3801+33_3801+35del (MSH6) MANE Select	NP_000170.1:n.3801+33_3801+35del
NM_001281492.2:c.3411+33_3411+35del (MSH6)	NP_001268421.1:n.3411+33_3411+35del
NM_001281493.2:c.2895+33_2895+35del (MSH6)	NP_001268422.1:n.2895+33_2895+35del
NM_001281494.2:c.2895+33_2895+35del (MSH6)	NP_001268423.1:n.2895+33_2895+35del