Canonical Allele Identifier: CA2499216111

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1049770
• ClinVar RCV Id: RCV001356305
• dbSNP Id: rs2104380327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799965del , CM000664.2:g.47799965del	GRCh38
NC_000002.11:g.48027104del , CM000664.1:g.48027104del	GRCh37
NC_000002.10:g.47880608del	NCBI36
NG_007111.1:g.21819del , LRG_219:g.21819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1685del (MSH6)	ENSP00000406248.2:p.Gly562ValfsTer2
ENST00000420813.6:c.1685del (MSH6)	ENSP00000390382.2:p.Gly562ValfsTer2
ENST00000455383.6:c.1685del (MSH6)	ENSP00000397484.2:p.Gly562ValfsTer2
ENST00000700004.2:c.1982del (MSH6)	ENSP00000514752.2:p.Gly661ValfsTer2
ENST00000699999.1:n.2066del (MSH6)
ENST00000700000.1:c.1606+376del (MSH6)	ENSP00000514749.1:n.1606+376del
ENST00000700002.1:c.1988del (MSH6)	ENSP00000514750.1:p.Gly663ValfsTer2
ENST00000700003.1:c.628-3455del (MSH6)	ENSP00000514751.1:n.628-3455del
ENST00000700004.1:c.1139del (MSH6)	ENSP00000514752.1:p.Gly380ValfsTer2
ENST00000234420.11:c.1982del (MSH6) MANE Select	ENSP00000234420.5:p.Gly661ValfsTer2
ENST00000540021.6:c.1592del (MSH6)	ENSP00000446475.1:p.Gly531ValfsTer2
ENST00000652107.1:c.1685del (MSH6)	ENSP00000498629.1:p.Gly562ValfsTer2
ENST00000673637.1:c.1685del (MSH6)	ENSP00000501310.1:p.Gly562ValfsTer2
ENST00000234420.9:c.1982del (MSH6)	ENSP00000234420.4:p.Gly661ValfsTer2
ENST00000405808.5:c.169+8231del (FBXO11)	ENSP00000385127.1:n.169+8231del
ENST00000434234.5:c.*124+8030del (FBXO11)	ENSP00000402692.1:n.*124+8030del
ENST00000445503.5:c.*1329del (MSH6)	ENSP00000405294.1:n.*1329del
ENST00000538136.1:c.1076del (MSH6)	ENSP00000438580.1:p.Gly359ValfsTer2
ENST00000540021.5:c.1592del (MSH6)	ENSP00000446475.1:p.Gly531ValfsTer2
ENST00000614496.4:c.1076del (MSH6)	ENSP00000477844.1:p.Gly359ValfsTer2
ENST00000616033.4:c.1979del (MSH6)	ENSP00000480261.1:p.Gly660ValfsTer2
ENST00000622629.4:c.-1115del (MSH6)	ENSP00000482078.1:n.-1115del
NM_000179.2:c.1982del , LRG_219t1:c.1982del (MSH6)	NP_000170.1:p.Gly661ValfsTer2
NM_001281492.1:c.1592del (MSH6)	NP_001268421.1:p.Gly531ValfsTer2
NM_001281493.1:c.1076del (MSH6)	NP_001268422.1:p.Gly359ValfsTer2
NM_001281494.1:c.1076del (MSH6)	NP_001268423.1:p.Gly359ValfsTer2
XM_005264271.1:c.1685del (MSH6)	XP_005264328.1:p.Gly562ValfsTer2
XM_011532798.1:c.1799del (MSH6)	XP_011531100.1:p.Gly600ValfsTer2
XM_011532799.1:c.1685del (MSH6)	XP_011531101.1:p.Gly562ValfsTer2
XM_011532800.1:c.1685del (MSH6)	XP_011531102.1:p.Gly562ValfsTer2
XM_024452819.1:c.1982del (MSH6)	XP_024308587.1:p.Gly661ValfsTer2
XM_024452820.1:c.1799del (MSH6)	XP_024308588.1:p.Gly600ValfsTer2
XM_024452821.1:c.1685del (MSH6)	XP_024308589.1:p.Gly562ValfsTer2
XM_024452822.1:c.1076del (MSH6)	XP_024308590.1:p.Gly359ValfsTer2
NM_000179.3:c.1982del (MSH6) MANE Select	NP_000170.1:p.Gly661ValfsTer2
NM_001281492.2:c.1592del (MSH6)	NP_001268421.1:p.Gly531ValfsTer2
NM_001281493.2:c.1076del (MSH6)	NP_001268422.1:p.Gly359ValfsTer2
NM_001281494.2:c.1076del (MSH6)	NP_001268423.1:p.Gly359ValfsTer2