Canonical Allele Identifier: CA2580067019

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1729541
• ClinVar RCV Id: RCV002324974

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803509_47803511delinsCTT , CM000664.2:g.47803509_47803511delinsCTT	GRCh38
NC_000002.11:g.48030648_48030650delinsCTT , CM000664.1:g.48030648_48030650delinsCTT	GRCh37
NC_000002.10:g.47884152_47884154delinsCTT	NCBI36
NG_007111.1:g.25363_25365delinsCTT , LRG_219:g.25363_25365delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2965_2967delinsCTT (MSH6)	ENSP00000406248.2:p.Phe989Leu
ENST00000420813.6:c.2965_2967delinsCTT (MSH6)	ENSP00000390382.2:p.Phe989Leu
ENST00000455383.6:c.2965_2967delinsCTT (MSH6)	ENSP00000397484.2:p.Phe989Leu
ENST00000700004.2:c.3173-2109_3173-2107delinsCTT (MSH6)	ENSP00000514752.2:n.3173-2109_3173-2107delinsCTT
ENST00000699999.1:n.3346_3348delinsCTT (MSH6)
ENST00000700000.1:c.1696_1698delinsCTT (MSH6)	ENSP00000514749.1:p.Phe566Leu
ENST00000700002.1:c.3268_3270delinsCTT (MSH6)	ENSP00000514750.1:p.Phe1090Leu
ENST00000700003.1:c.717_719delinsCTT (MSH6)	ENSP00000514751.1:n.717_719delinsCTT
ENST00000700004.1:c.2330-2109_2330-2107delinsCTT (MSH6)	ENSP00000514752.1:n.2330-2109_2330-2107delinsCTT
ENST00000700005.1:n.2113_2115delinsCTT (MSH6)
ENST00000700006.1:n.2110_2112delinsCTT (MSH6)
ENST00000700007.1:n.1267_1269delinsCTT (MSH6)
ENST00000700008.1:n.841_843delinsCTT (MSH6)
ENST00000700009.1:n.840_842delinsCTT (MSH6)
ENST00000700010.1:n.671_673delinsCTT (MSH6)
ENST00000700011.1:n.742_744delinsCTT (MSH6)
ENST00000234420.11:c.3262_3264delinsCTT (MSH6) MANE Select	ENSP00000234420.5:p.Phe1088Leu
ENST00000540021.6:c.2872_2874delinsCTT (MSH6)	ENSP00000446475.1:p.Phe958Leu
ENST00000652107.1:c.2965_2967delinsCTT (MSH6)	ENSP00000498629.1:p.Phe989Leu
ENST00000673637.1:c.2965_2967delinsCTT (MSH6)	ENSP00000501310.1:p.Phe989Leu
ENST00000234420.9:c.3262_3264delinsCTT (MSH6)	ENSP00000234420.4:p.Phe1088Leu
ENST00000405808.5:c.169+4684_169+4686delinsAAG (FBXO11)	ENSP00000385127.1:n.169+4684_169+4686delinsAAG
ENST00000434234.5:c.*124+4483_*124+4485delinsAAG (FBXO11)	ENSP00000402692.1:n.*124+4483_*124+4485delinsAAG
ENST00000445503.5:c.*2609_*2611delinsCTT (MSH6)	ENSP00000405294.1:n.*2609_*2611delinsCTT
ENST00000538136.1:c.2356_2358delinsCTT (MSH6)	ENSP00000438580.1:p.Phe786Leu
ENST00000540021.5:c.2872_2874delinsCTT (MSH6)	ENSP00000446475.1:p.Phe958Leu
ENST00000614496.4:c.2356_2358delinsCTT (MSH6)	ENSP00000477844.1:p.Phe786Leu
ENST00000622629.4:c.166_168delinsCTT (MSH6)	ENSP00000482078.1:p.Phe56Leu
NM_000179.2:c.3262_3264delinsCTT , LRG_219t1:c.3262_3264delinsCTT (MSH6)	NP_000170.1:p.Phe1088Leu
NM_001281492.1:c.2872_2874delinsCTT (MSH6)	NP_001268421.1:p.Phe958Leu
NM_001281493.1:c.2356_2358delinsCTT (MSH6)	NP_001268422.1:p.Phe786Leu
NM_001281494.1:c.2356_2358delinsCTT (MSH6)	NP_001268423.1:p.Phe786Leu
XM_005264271.1:c.2965_2967delinsCTT (MSH6)	XP_005264328.1:p.Phe989Leu
XM_011532798.1:c.3079_3081delinsCTT (MSH6)	XP_011531100.1:p.Phe1027Leu
XM_011532799.1:c.2965_2967delinsCTT (MSH6)	XP_011531101.1:p.Phe989Leu
XM_011532800.1:c.2965_2967delinsCTT (MSH6)	XP_011531102.1:p.Phe989Leu
XM_024452819.1:c.3262_3264delinsCTT (MSH6)	XP_024308587.1:p.Phe1088Leu
XM_024452820.1:c.3079_3081delinsCTT (MSH6)	XP_024308588.1:p.Phe1027Leu
XM_024452821.1:c.2965_2967delinsCTT (MSH6)	XP_024308589.1:p.Phe989Leu
XM_024452822.1:c.2356_2358delinsCTT (MSH6)	XP_024308590.1:p.Phe786Leu
NM_000179.3:c.3262_3264delinsCTT (MSH6) MANE Select	NP_000170.1:p.Phe1088Leu
NM_001281492.2:c.2872_2874delinsCTT (MSH6)	NP_001268421.1:p.Phe958Leu
NM_001281493.2:c.2356_2358delinsCTT (MSH6)	NP_001268422.1:p.Phe786Leu
NM_001281494.2:c.2356_2358delinsCTT (MSH6)	NP_001268423.1:p.Phe786Leu