Canonical Allele Identifier: CA46708504

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2453186
• ClinVar RCV Id: RCV003182641
• dbSNP Id: rs959582265
• MyVariant Identifiers: chr2:g.48026749_48026754del (hg19) ; chr2:g.47799610_47799615del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799615_47799620del , CM000664.2:g.47799615_47799620del	GRCh38
NC_000002.11:g.48026754_48026759del , CM000664.1:g.48026754_48026759del	GRCh37
NC_000002.10:g.47880258_47880263del	NCBI36
NG_007111.1:g.21469_21474del , LRG_219:g.21469_21474del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1335_1340del (MSH6)	ENSP00000406248.2:p.Lys446_Glu447del
ENST00000420813.6:c.1335_1340del (MSH6)	ENSP00000390382.2:p.Lys446_Glu447del
ENST00000455383.6:c.1335_1340del (MSH6)	ENSP00000397484.2:p.Lys446_Glu447del
ENST00000700004.2:c.1632_1637del (MSH6)	ENSP00000514752.2:p.Lys545_Glu546del
ENST00000699999.1:n.1716_1721del (MSH6)
ENST00000700000.1:c.1606+26_1606+31del (MSH6)	ENSP00000514749.1:n.1606+26_1606+31del
ENST00000700002.1:c.1638_1643del (MSH6)	ENSP00000514750.1:p.Lys547_Glu548del
ENST00000700003.1:c.627+3552_627+3557del (MSH6)	ENSP00000514751.1:n.627+3552_627+3557del
ENST00000700004.1:c.789_794del (MSH6)	ENSP00000514752.1:p.Lys264_Glu265del
ENST00000234420.11:c.1632_1637del (MSH6) MANE Select	ENSP00000234420.5:p.Lys545_Glu546del
ENST00000540021.6:c.1242_1247del (MSH6)	ENSP00000446475.1:p.Lys415_Glu416del
ENST00000652107.1:c.1335_1340del (MSH6)	ENSP00000498629.1:p.Lys446_Glu447del
ENST00000673637.1:c.1335_1340del (MSH6)	ENSP00000501310.1:p.Lys446_Glu447del
ENST00000234420.9:c.1632_1637del (MSH6)	ENSP00000234420.4:p.Lys545_Glu546del
ENST00000405808.5:c.169+8580_169+8585del (FBXO11)	ENSP00000385127.1:n.169+8580_169+8585del
ENST00000434234.5:c.*124+8379_*124+8384del (FBXO11)	ENSP00000402692.1:n.*124+8379_*124+8384del
ENST00000445503.5:c.*979_*984del (MSH6)	ENSP00000405294.1:n.*979_*984del
ENST00000538136.1:c.726_731del (MSH6)	ENSP00000438580.1:p.Lys243_Glu244del
ENST00000540021.5:c.1242_1247del (MSH6)	ENSP00000446475.1:p.Lys415_Glu416del
ENST00000614496.4:c.726_731del (MSH6)	ENSP00000477844.1:p.Lys243_Glu244del
ENST00000616033.4:c.1629_1634del (MSH6)	ENSP00000480261.1:p.Lys544_Glu545del
ENST00000622629.4:c.-1465_-1460del (MSH6)	ENSP00000482078.1:n.-1465_-1460del
NM_000179.2:c.1632_1637del , LRG_219t1:c.1632_1637del (MSH6)	NP_000170.1:p.Lys545_Glu546del
NM_001281492.1:c.1242_1247del (MSH6)	NP_001268421.1:p.Lys415_Glu416del
NM_001281493.1:c.726_731del (MSH6)	NP_001268422.1:p.Lys243_Glu244del
NM_001281494.1:c.726_731del (MSH6)	NP_001268423.1:p.Lys243_Glu244del
XM_005264271.1:c.1335_1340del (MSH6)	XP_005264328.1:p.Lys446_Glu447del
XM_011532798.1:c.1449_1454del (MSH6)	XP_011531100.1:p.Lys484_Glu485del
XM_011532799.1:c.1335_1340del (MSH6)	XP_011531101.1:p.Lys446_Glu447del
XM_011532800.1:c.1335_1340del (MSH6)	XP_011531102.1:p.Lys446_Glu447del
XM_024452819.1:c.1632_1637del (MSH6)	XP_024308587.1:p.Lys545_Glu546del
XM_024452820.1:c.1449_1454del (MSH6)	XP_024308588.1:p.Lys484_Glu485del
XM_024452821.1:c.1335_1340del (MSH6)	XP_024308589.1:p.Lys446_Glu447del
XM_024452822.1:c.726_731del (MSH6)	XP_024308590.1:p.Lys243_Glu244del
NM_000179.3:c.1632_1637del (MSH6) MANE Select	NP_000170.1:p.Lys545_Glu546del
NM_001281492.2:c.1242_1247del (MSH6)	NP_001268421.1:p.Lys415_Glu416del
NM_001281493.2:c.726_731del (MSH6)	NP_001268422.1:p.Lys243_Glu244del
NM_001281494.2:c.726_731del (MSH6)	NP_001268423.1:p.Lys243_Glu244del