Canonical Allele Identifier: CA010147

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89277
• ClinVar RCV Id: RCV000074742
• dbSNP Id: rs587779237
• MyVariant Identifiers: chr2:g.48027501_48027502del (hg19) ; chr2:g.47800362_47800363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800362_47800363del , CM000664.2:g.47800362_47800363del	GRCh38
NC_000002.11:g.48027501_48027502del , CM000664.1:g.48027501_48027502del	GRCh37
NC_000002.10:g.47881005_47881006del	NCBI36
NG_007111.1:g.22216_22217del , LRG_219:g.22216_22217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2082_2083del (MSH6)	ENSP00000406248.2:p.Ala695HisfsTer9
ENST00000420813.6:c.2082_2083del (MSH6)	ENSP00000390382.2:p.Ala695HisfsTer9
ENST00000455383.6:c.2082_2083del (MSH6)	ENSP00000397484.2:p.Ala695HisfsTer9
ENST00000700004.2:c.2379_2380del (MSH6)	ENSP00000514752.2:p.Ala794HisfsTer9
ENST00000699999.1:n.2463_2464del (MSH6)
ENST00000700000.1:c.1606+773_1606+774del (MSH6)	ENSP00000514749.1:n.1606+773_1606+774del
ENST00000700002.1:c.2385_2386del (MSH6)	ENSP00000514750.1:p.Ala796HisfsTer9
ENST00000700003.1:c.628-3058_628-3057del (MSH6)	ENSP00000514751.1:n.628-3058_628-3057del
ENST00000700004.1:c.1536_1537del (MSH6)	ENSP00000514752.1:p.Ala513HisfsTer9
ENST00000234420.11:c.2379_2380del (MSH6) MANE Select	ENSP00000234420.5:p.Ala794HisfsTer9
ENST00000540021.6:c.1989_1990del (MSH6)	ENSP00000446475.1:p.Ala664HisfsTer9
ENST00000652107.1:c.2082_2083del (MSH6)	ENSP00000498629.1:p.Ala695HisfsTer9
ENST00000673637.1:c.2082_2083del (MSH6)	ENSP00000501310.1:p.Ala695HisfsTer9
ENST00000234420.9:c.2379_2380del (MSH6)	ENSP00000234420.4:p.Ala794HisfsTer9
ENST00000405808.5:c.169+7832_169+7833del (FBXO11)	ENSP00000385127.1:n.169+7832_169+7833del
ENST00000434234.5:c.*124+7631_*124+7632del (FBXO11)	ENSP00000402692.1:n.*124+7631_*124+7632del
ENST00000445503.5:c.*1726_*1727del (MSH6)	ENSP00000405294.1:n.*1726_*1727del
ENST00000538136.1:c.1473_1474del (MSH6)	ENSP00000438580.1:p.Ala492HisfsTer9
ENST00000540021.5:c.1989_1990del (MSH6)	ENSP00000446475.1:p.Ala664HisfsTer9
ENST00000614496.4:c.1473_1474del (MSH6)	ENSP00000477844.1:p.Ala492HisfsTer9
ENST00000616033.4:c.2376_2377del (MSH6)	ENSP00000480261.1:p.Ala793HisfsTer9
ENST00000622629.4:c.-718_-717del (MSH6)	ENSP00000482078.1:n.-718_-717del
NM_000179.2:c.2379_2380del , LRG_219t1:c.2379_2380del (MSH6)	NP_000170.1:p.Ala794HisfsTer9
NM_001281492.1:c.1989_1990del (MSH6)	NP_001268421.1:p.Ala664HisfsTer9
NM_001281493.1:c.1473_1474del (MSH6)	NP_001268422.1:p.Ala492HisfsTer9
NM_001281494.1:c.1473_1474del (MSH6)	NP_001268423.1:p.Ala492HisfsTer9
XM_005264271.1:c.2082_2083del (MSH6)	XP_005264328.1:p.Ala695HisfsTer9
XM_011532798.1:c.2196_2197del (MSH6)	XP_011531100.1:p.Ala733HisfsTer9
XM_011532799.1:c.2082_2083del (MSH6)	XP_011531101.1:p.Ala695HisfsTer9
XM_011532800.1:c.2082_2083del (MSH6)	XP_011531102.1:p.Ala695HisfsTer9
XM_024452819.1:c.2379_2380del (MSH6)	XP_024308587.1:p.Ala794HisfsTer9
XM_024452820.1:c.2196_2197del (MSH6)	XP_024308588.1:p.Ala733HisfsTer9
XM_024452821.1:c.2082_2083del (MSH6)	XP_024308589.1:p.Ala695HisfsTer9
XM_024452822.1:c.1473_1474del (MSH6)	XP_024308590.1:p.Ala492HisfsTer9
NM_000179.3:c.2379_2380del (MSH6) MANE Select	NP_000170.1:p.Ala794HisfsTer9
NM_001281492.2:c.1989_1990del (MSH6)	NP_001268421.1:p.Ala664HisfsTer9
NM_001281493.2:c.1473_1474del (MSH6)	NP_001268422.1:p.Ala492HisfsTer9
NM_001281494.2:c.1473_1474del (MSH6)	NP_001268423.1:p.Ala492HisfsTer9