Canonical Allele Identifier: CA009184

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89223
• ClinVar RCV Id: RCV000564199 ; RCV000074686 ; RCV001682753 ; RCV001854275 ; RCV003450931
• dbSNP Id: rs267608050
• gnomAD v4: 2-47799763-GT-G
• MyVariant Identifiers: chr2:g.48026906del (hg19) ; chr2:g.47799767del (hg38)
• PubMed: PMID:10508506 ; PMID:18625694 ; PMID:20028993 ; PMID:22081473

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799767del , CM000664.2:g.47799767del	GRCh38
NC_000002.11:g.48026906del , CM000664.1:g.48026906del	GRCh37
NC_000002.10:g.47880410del	NCBI36
NG_007111.1:g.21621del , LRG_219:g.21621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1487del (MSH6)	ENSP00000406248.2:p.Leu496TyrfsTer15
ENST00000420813.6:c.1487del (MSH6)	ENSP00000390382.2:p.Leu496TyrfsTer15
ENST00000455383.6:c.1487del (MSH6)	ENSP00000397484.2:p.Leu496TyrfsTer15
ENST00000700004.2:c.1784del (MSH6)	ENSP00000514752.2:p.Leu595TyrfsTer15
ENST00000699999.1:n.1868del (MSH6)
ENST00000700000.1:c.1606+178del (MSH6)	ENSP00000514749.1:n.1606+178del
ENST00000700002.1:c.1790del (MSH6)	ENSP00000514750.1:p.Leu597TyrfsTer15
ENST00000700003.1:c.628-3653del (MSH6)	ENSP00000514751.1:n.628-3653del
ENST00000700004.1:c.941del (MSH6)	ENSP00000514752.1:p.Leu314TyrfsTer15
ENST00000234420.11:c.1784del (MSH6) MANE Select	ENSP00000234420.5:p.Leu595TyrfsTer15
ENST00000540021.6:c.1394del (MSH6)	ENSP00000446475.1:p.Leu465TyrfsTer15
ENST00000652107.1:c.1487del (MSH6)	ENSP00000498629.1:p.Leu496TyrfsTer15
ENST00000673637.1:c.1487del (MSH6)	ENSP00000501310.1:p.Leu496TyrfsTer15
ENST00000234420.9:c.1784del (MSH6)	ENSP00000234420.4:p.Leu595TyrfsTer15
ENST00000405808.5:c.169+8431del (FBXO11)	ENSP00000385127.1:n.169+8431del
ENST00000434234.5:c.*124+8230del (FBXO11)	ENSP00000402692.1:n.*124+8230del
ENST00000445503.5:c.*1131del (MSH6)	ENSP00000405294.1:n.*1131del
ENST00000538136.1:c.878del (MSH6)	ENSP00000438580.1:p.Leu293TyrfsTer15
ENST00000540021.5:c.1394del (MSH6)	ENSP00000446475.1:p.Leu465TyrfsTer15
ENST00000614496.4:c.878del (MSH6)	ENSP00000477844.1:p.Leu293TyrfsTer15
ENST00000616033.4:c.1781del (MSH6)	ENSP00000480261.1:p.Leu594TyrfsTer15
ENST00000622629.4:c.-1313del (MSH6)	ENSP00000482078.1:n.-1313del
NM_000179.2:c.1784del , LRG_219t1:c.1784del (MSH6)	NP_000170.1:p.Leu595TyrfsTer15
NM_001281492.1:c.1394del (MSH6)	NP_001268421.1:p.Leu465TyrfsTer15
NM_001281493.1:c.878del (MSH6)	NP_001268422.1:p.Leu293TyrfsTer15
NM_001281494.1:c.878del (MSH6)	NP_001268423.1:p.Leu293TyrfsTer15
XM_005264271.1:c.1487del (MSH6)	XP_005264328.1:p.Leu496TyrfsTer15
XM_011532798.1:c.1601del (MSH6)	XP_011531100.1:p.Leu534TyrfsTer15
XM_011532799.1:c.1487del (MSH6)	XP_011531101.1:p.Leu496TyrfsTer15
XM_011532800.1:c.1487del (MSH6)	XP_011531102.1:p.Leu496TyrfsTer15
XM_024452819.1:c.1784del (MSH6)	XP_024308587.1:p.Leu595TyrfsTer15
XM_024452820.1:c.1601del (MSH6)	XP_024308588.1:p.Leu534TyrfsTer15
XM_024452821.1:c.1487del (MSH6)	XP_024308589.1:p.Leu496TyrfsTer15
XM_024452822.1:c.878del (MSH6)	XP_024308590.1:p.Leu293TyrfsTer15
NM_000179.3:c.1784del (MSH6) MANE Select	NP_000170.1:p.Leu595TyrfsTer15
NM_001281492.2:c.1394del (MSH6)	NP_001268421.1:p.Leu465TyrfsTer15
NM_001281493.2:c.878del (MSH6)	NP_001268422.1:p.Leu293TyrfsTer15
NM_001281494.2:c.878del (MSH6)	NP_001268423.1:p.Leu293TyrfsTer15