Canonical Allele Identifier: CA279655

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 218060
• ClinVar RCV Id: RCV000201961 ; RCV000500492 ; RCV000554689 ; RCV000582996 ; RCV003454529 ; RCV003165480
• dbSNP Id: rs863225406
• gnomAD v4: 2-47803483-TTC-T
• MyVariant Identifiers: chr2:g.48030624_48030625del (hg19) ; chr2:g.47803485_47803486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803485_47803486del , CM000664.2:g.47803485_47803486del	GRCh38
NC_000002.11:g.48030624_48030625del , CM000664.1:g.48030624_48030625del	GRCh37
NC_000002.10:g.47884128_47884129del	NCBI36
NG_007111.1:g.25339_25340del , LRG_219:g.25339_25340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2941_2942del (MSH6)	ENSP00000406248.2:p.Leu981ValfsTer12
ENST00000420813.6:c.2941_2942del (MSH6)	ENSP00000390382.2:p.Leu981ValfsTer12
ENST00000455383.6:c.2941_2942del (MSH6)	ENSP00000397484.2:p.Leu981ValfsTer12
ENST00000700004.2:c.3173-2133_3173-2132del (MSH6)	ENSP00000514752.2:n.3173-2133_3173-2132del
ENST00000699999.1:n.3322_3323del (MSH6)
ENST00000700000.1:c.1672_1673del (MSH6)	ENSP00000514749.1:p.Leu558ValfsTer12
ENST00000700002.1:c.3244_3245del (MSH6)	ENSP00000514750.1:p.Leu1082ValfsTer12
ENST00000700003.1:c.693_694del (MSH6)	ENSP00000514751.1:n.693_694del
ENST00000700004.1:c.2330-2133_2330-2132del (MSH6)	ENSP00000514752.1:n.2330-2133_2330-2132del
ENST00000700005.1:n.2089_2090del (MSH6)
ENST00000700006.1:n.2086_2087del (MSH6)
ENST00000700007.1:n.1243_1244del (MSH6)
ENST00000700008.1:n.817_818del (MSH6)
ENST00000700009.1:n.816_817del (MSH6)
ENST00000700010.1:n.647_648del (MSH6)
ENST00000700011.1:n.718_719del (MSH6)
ENST00000234420.11:c.3238_3239del (MSH6) MANE Select	ENSP00000234420.5:p.Leu1080ValfsTer12
ENST00000540021.6:c.2848_2849del (MSH6)	ENSP00000446475.1:p.Leu950ValfsTer12
ENST00000652107.1:c.2941_2942del (MSH6)	ENSP00000498629.1:p.Leu981ValfsTer12
ENST00000673637.1:c.2941_2942del (MSH6)	ENSP00000501310.1:p.Leu981ValfsTer12
ENST00000234420.9:c.3238_3239del (MSH6)	ENSP00000234420.4:p.Leu1080ValfsTer12
ENST00000405808.5:c.169+4710_169+4711del (FBXO11)	ENSP00000385127.1:n.169+4710_169+4711del
ENST00000434234.5:c.*124+4509_*124+4510del (FBXO11)	ENSP00000402692.1:n.*124+4509_*124+4510del
ENST00000445503.5:c.*2585_*2586del (MSH6)	ENSP00000405294.1:n.*2585_*2586del
ENST00000538136.1:c.2332_2333del (MSH6)	ENSP00000438580.1:p.Leu778ValfsTer12
ENST00000540021.5:c.2848_2849del (MSH6)	ENSP00000446475.1:p.Leu950ValfsTer12
ENST00000614496.4:c.2332_2333del (MSH6)	ENSP00000477844.1:p.Leu778ValfsTer12
ENST00000622629.4:c.142_143del (MSH6)	ENSP00000482078.1:p.Leu48ValfsTer12
NM_000179.2:c.3238_3239del , LRG_219t1:c.3238_3239del (MSH6)	NP_000170.1:p.Leu1080ValfsTer12
NM_001281492.1:c.2848_2849del (MSH6)	NP_001268421.1:p.Leu950ValfsTer12
NM_001281493.1:c.2332_2333del (MSH6)	NP_001268422.1:p.Leu778ValfsTer12
NM_001281494.1:c.2332_2333del (MSH6)	NP_001268423.1:p.Leu778ValfsTer12
XM_005264271.1:c.2941_2942del (MSH6)	XP_005264328.1:p.Leu981ValfsTer12
XM_011532798.1:c.3055_3056del (MSH6)	XP_011531100.1:p.Leu1019ValfsTer12
XM_011532799.1:c.2941_2942del (MSH6)	XP_011531101.1:p.Leu981ValfsTer12
XM_011532800.1:c.2941_2942del (MSH6)	XP_011531102.1:p.Leu981ValfsTer12
XM_024452819.1:c.3238_3239del (MSH6)	XP_024308587.1:p.Leu1080ValfsTer12
XM_024452820.1:c.3055_3056del (MSH6)	XP_024308588.1:p.Leu1019ValfsTer12
XM_024452821.1:c.2941_2942del (MSH6)	XP_024308589.1:p.Leu981ValfsTer12
XM_024452822.1:c.2332_2333del (MSH6)	XP_024308590.1:p.Leu778ValfsTer12
NM_000179.3:c.3238_3239del (MSH6) MANE Select	NP_000170.1:p.Leu1080ValfsTer12
NM_001281492.2:c.2848_2849del (MSH6)	NP_001268421.1:p.Leu950ValfsTer12
NM_001281493.2:c.2332_2333del (MSH6)	NP_001268422.1:p.Leu778ValfsTer12
NM_001281494.2:c.2332_2333del (MSH6)	NP_001268423.1:p.Leu778ValfsTer12