Canonical Allele Identifier: CA2573134924

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1386337
• ClinVar RCV Id: RCV001881417 ; RCV003452060 ; RCV004041385
• dbSNP Id: rs2104352046
• gnomAD v4: 2-47799549-GACTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799552_47799555del , CM000664.2:g.47799552_47799555del	GRCh38
NC_000002.11:g.48026691_48026694del , CM000664.1:g.48026691_48026694del	GRCh37
NC_000002.10:g.47880195_47880198del	NCBI36
NG_007111.1:g.21406_21409del , LRG_219:g.21406_21409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1272_1275del (MSH6)	ENSP00000406248.2:p.Tyr425ValfsTer?
ENST00000420813.6:c.1272_1275del (MSH6)	ENSP00000390382.2:p.Tyr425ValfsTer?
ENST00000455383.6:c.1272_1275del (MSH6)	ENSP00000397484.2:p.Tyr425ValfsTer?
ENST00000700004.2:c.1569_1572del (MSH6)	ENSP00000514752.2:p.Tyr524ValfsTer?
ENST00000699999.1:n.1653_1656del (MSH6)
ENST00000700000.1:c.1569_1572del (MSH6)	ENSP00000514749.1:p.Tyr524ValfsTer?
ENST00000700002.1:c.1575_1578del (MSH6)	ENSP00000514750.1:p.Tyr526ValfsTer?
ENST00000700003.1:c.627+3489_627+3492del (MSH6)	ENSP00000514751.1:n.627+3489_627+3492del
ENST00000700004.1:c.726_729del (MSH6)	ENSP00000514752.1:p.Tyr243ValfsTer?
ENST00000234420.11:c.1569_1572del (MSH6) MANE Select	ENSP00000234420.5:p.Tyr524ValfsTer?
ENST00000540021.6:c.1179_1182del (MSH6)	ENSP00000446475.1:p.Tyr394ValfsTer?
ENST00000652107.1:c.1272_1275del (MSH6)	ENSP00000498629.1:p.Tyr425ValfsTer?
ENST00000673637.1:c.1272_1275del (MSH6)	ENSP00000501310.1:p.Tyr425ValfsTer?
ENST00000234420.9:c.1569_1572del (MSH6)	ENSP00000234420.4:p.Tyr524ValfsTer?
ENST00000405808.5:c.169+8642_169+8645del (FBXO11)	ENSP00000385127.1:n.169+8642_169+8645del
ENST00000434234.5:c.*124+8441_*124+8444del (FBXO11)	ENSP00000402692.1:n.*124+8441_*124+8444del
ENST00000445503.5:c.*916_*919del (MSH6)	ENSP00000405294.1:n.*916_*919del
ENST00000538136.1:c.663_666del (MSH6)	ENSP00000438580.1:p.Tyr222ValfsTer?
ENST00000540021.5:c.1179_1182del (MSH6)	ENSP00000446475.1:p.Tyr394ValfsTer?
ENST00000614496.4:c.663_666del (MSH6)	ENSP00000477844.1:p.Tyr222ValfsTer?
ENST00000616033.4:c.1566_1569del (MSH6)	ENSP00000480261.1:p.Tyr523ValfsTer?
ENST00000622629.4:c.-1528_-1525del (MSH6)	ENSP00000482078.1:n.-1528_-1525del
NM_000179.2:c.1569_1572del , LRG_219t1:c.1569_1572del (MSH6)	NP_000170.1:p.Tyr524ValfsTer?
NM_001281492.1:c.1179_1182del (MSH6)	NP_001268421.1:p.Tyr394ValfsTer?
NM_001281493.1:c.663_666del (MSH6)	NP_001268422.1:p.Tyr222ValfsTer?
NM_001281494.1:c.663_666del (MSH6)	NP_001268423.1:p.Tyr222ValfsTer?
XM_005264271.1:c.1272_1275del (MSH6)	XP_005264328.1:p.Tyr425ValfsTer?
XM_011532798.1:c.1386_1389del (MSH6)	XP_011531100.1:p.Tyr463ValfsTer?
XM_011532799.1:c.1272_1275del (MSH6)	XP_011531101.1:p.Tyr425ValfsTer?
XM_011532800.1:c.1272_1275del (MSH6)	XP_011531102.1:p.Tyr425ValfsTer?
XM_024452819.1:c.1569_1572del (MSH6)	XP_024308587.1:p.Tyr524ValfsTer?
XM_024452820.1:c.1386_1389del (MSH6)	XP_024308588.1:p.Tyr463ValfsTer?
XM_024452821.1:c.1272_1275del (MSH6)	XP_024308589.1:p.Tyr425ValfsTer?
XM_024452822.1:c.663_666del (MSH6)	XP_024308590.1:p.Tyr222ValfsTer?
NM_000179.3:c.1569_1572del (MSH6) MANE Select	NP_000170.1:p.Tyr524ValfsTer?
NM_001281492.2:c.1179_1182del (MSH6)	NP_001268421.1:p.Tyr394ValfsTer?
NM_001281493.2:c.663_666del (MSH6)	NP_001268422.1:p.Tyr222ValfsTer?
NM_001281494.2:c.663_666del (MSH6)	NP_001268423.1:p.Tyr222ValfsTer?