Canonical Allele Identifier: CA2580067841

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1790367
• ClinVar RCV Id: RCV002457830

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800360_47800361delinsTT , CM000664.2:g.47800360_47800361delinsTT	GRCh38
NC_000002.11:g.48027499_48027500delinsTT , CM000664.1:g.48027499_48027500delinsTT	GRCh37
NC_000002.10:g.47881003_47881004delinsTT	NCBI36
NG_007111.1:g.22214_22215delinsTT , LRG_219:g.22214_22215delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2080_2081delinsTT (MSH6)	ENSP00000406248.2:p.Asp694Phe
ENST00000420813.6:c.2080_2081delinsTT (MSH6)	ENSP00000390382.2:p.Asp694Phe
ENST00000455383.6:c.2080_2081delinsTT (MSH6)	ENSP00000397484.2:p.Asp694Phe
ENST00000700004.2:c.2377_2378delinsTT (MSH6)	ENSP00000514752.2:p.Asp793Phe
ENST00000699999.1:n.2461_2462delinsTT (MSH6)
ENST00000700000.1:c.1606+771_1606+772delinsTT (MSH6)	ENSP00000514749.1:n.1606+771_1606+772delinsTT
ENST00000700002.1:c.2383_2384delinsTT (MSH6)	ENSP00000514750.1:p.Asp795Phe
ENST00000700003.1:c.628-3060_628-3059delinsTT (MSH6)	ENSP00000514751.1:n.628-3060_628-3059delinsTT
ENST00000700004.1:c.1534_1535delinsTT (MSH6)	ENSP00000514752.1:p.Asp512Phe
ENST00000234420.11:c.2377_2378delinsTT (MSH6) MANE Select	ENSP00000234420.5:p.Asp793Phe
ENST00000540021.6:c.1987_1988delinsTT (MSH6)	ENSP00000446475.1:p.Asp663Phe
ENST00000652107.1:c.2080_2081delinsTT (MSH6)	ENSP00000498629.1:p.Asp694Phe
ENST00000673637.1:c.2080_2081delinsTT (MSH6)	ENSP00000501310.1:p.Asp694Phe
ENST00000234420.9:c.2377_2378delinsTT (MSH6)	ENSP00000234420.4:p.Asp793Phe
ENST00000405808.5:c.169+7834_169+7835delinsAA (FBXO11)	ENSP00000385127.1:n.169+7834_169+7835delinsAA
ENST00000434234.5:c.*124+7633_*124+7634delinsAA (FBXO11)	ENSP00000402692.1:n.*124+7633_*124+7634delinsAA
ENST00000445503.5:c.*1724_*1725delinsTT (MSH6)	ENSP00000405294.1:n.*1724_*1725delinsTT
ENST00000538136.1:c.1471_1472delinsTT (MSH6)	ENSP00000438580.1:p.Asp491Phe
ENST00000540021.5:c.1987_1988delinsTT (MSH6)	ENSP00000446475.1:p.Asp663Phe
ENST00000614496.4:c.1471_1472delinsTT (MSH6)	ENSP00000477844.1:p.Asp491Phe
ENST00000616033.4:c.2374_2375delinsTT (MSH6)	ENSP00000480261.1:p.Asp792Phe
ENST00000622629.4:c.-720_-719delinsTT (MSH6)	ENSP00000482078.1:n.-720_-719delinsTT
NM_000179.2:c.2377_2378delinsTT , LRG_219t1:c.2377_2378delinsTT (MSH6)	NP_000170.1:p.Asp793Phe
NM_001281492.1:c.1987_1988delinsTT (MSH6)	NP_001268421.1:p.Asp663Phe
NM_001281493.1:c.1471_1472delinsTT (MSH6)	NP_001268422.1:p.Asp491Phe
NM_001281494.1:c.1471_1472delinsTT (MSH6)	NP_001268423.1:p.Asp491Phe
XM_005264271.1:c.2080_2081delinsTT (MSH6)	XP_005264328.1:p.Asp694Phe
XM_011532798.1:c.2194_2195delinsTT (MSH6)	XP_011531100.1:p.Asp732Phe
XM_011532799.1:c.2080_2081delinsTT (MSH6)	XP_011531101.1:p.Asp694Phe
XM_011532800.1:c.2080_2081delinsTT (MSH6)	XP_011531102.1:p.Asp694Phe
XM_024452819.1:c.2377_2378delinsTT (MSH6)	XP_024308587.1:p.Asp793Phe
XM_024452820.1:c.2194_2195delinsTT (MSH6)	XP_024308588.1:p.Asp732Phe
XM_024452821.1:c.2080_2081delinsTT (MSH6)	XP_024308589.1:p.Asp694Phe
XM_024452822.1:c.1471_1472delinsTT (MSH6)	XP_024308590.1:p.Asp491Phe
NM_000179.3:c.2377_2378delinsTT (MSH6) MANE Select	NP_000170.1:p.Asp793Phe
NM_001281492.2:c.1987_1988delinsTT (MSH6)	NP_001268421.1:p.Asp663Phe
NM_001281493.2:c.1471_1472delinsTT (MSH6)	NP_001268422.1:p.Asp491Phe
NM_001281494.2:c.1471_1472delinsTT (MSH6)	NP_001268423.1:p.Asp491Phe