Canonical Allele Identifier: CA16611140

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 410400
• ClinVar RCV Id: RCV000471789
• dbSNP Id: rs1060502877
• MyVariant Identifiers: chr2:g.48027034_48027036del (hg19) ; chr2:g.47799895_47799897del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799895_47799897del , CM000664.2:g.47799895_47799897del	GRCh38
NC_000002.11:g.48027034_48027036del , CM000664.1:g.48027034_48027036del	GRCh37
NC_000002.10:g.47880538_47880540del	NCBI36
NG_007111.1:g.21749_21751del , LRG_219:g.21749_21751del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1615_1617del (MSH6)	ENSP00000406248.2:p.Leu539del
ENST00000420813.6:c.1615_1617del (MSH6)	ENSP00000390382.2:p.Leu539del
ENST00000455383.6:c.1615_1617del (MSH6)	ENSP00000397484.2:p.Leu539del
ENST00000700004.2:c.1912_1914del (MSH6)	ENSP00000514752.2:p.Leu638del
ENST00000699999.1:n.1996_1998del (MSH6)
ENST00000700000.1:c.1606+306_1606+308del (MSH6)	ENSP00000514749.1:n.1606+306_1606+308del
ENST00000700002.1:c.1918_1920del (MSH6)	ENSP00000514750.1:p.Leu640del
ENST00000700003.1:c.628-3525_628-3523del (MSH6)	ENSP00000514751.1:n.628-3525_628-3523del
ENST00000700004.1:c.1069_1071del (MSH6)	ENSP00000514752.1:p.Leu357del
ENST00000234420.11:c.1912_1914del (MSH6) MANE Select	ENSP00000234420.5:p.Leu638del
ENST00000540021.6:c.1522_1524del (MSH6)	ENSP00000446475.1:p.Leu508del
ENST00000652107.1:c.1615_1617del (MSH6)	ENSP00000498629.1:p.Leu539del
ENST00000673637.1:c.1615_1617del (MSH6)	ENSP00000501310.1:p.Leu539del
ENST00000234420.9:c.1912_1914del (MSH6)	ENSP00000234420.4:p.Leu638del
ENST00000405808.5:c.169+8298_169+8300del (FBXO11)	ENSP00000385127.1:n.169+8298_169+8300del
ENST00000434234.5:c.*124+8097_*124+8099del (FBXO11)	ENSP00000402692.1:n.*124+8097_*124+8099de...
ENST00000445503.5:c.*1259_*1261del (MSH6)	ENSP00000405294.1:n.*1259_*1261del
ENST00000538136.1:c.1006_1008del (MSH6)	ENSP00000438580.1:p.Leu336del
ENST00000540021.5:c.1522_1524del (MSH6)	ENSP00000446475.1:p.Leu508del
ENST00000614496.4:c.1006_1008del (MSH6)	ENSP00000477844.1:p.Leu336del
ENST00000616033.4:c.1909_1911del (MSH6)	ENSP00000480261.1:p.Leu637del
ENST00000622629.4:c.-1185_-1183del (MSH6)	ENSP00000482078.1:n.-1185_-1183del
NM_000179.2:c.1912_1914del , LRG_219t1:c.1912_1914del (MSH6)	NP_000170.1:p.Leu638del
NM_001281492.1:c.1522_1524del (MSH6)	NP_001268421.1:p.Leu508del
NM_001281493.1:c.1006_1008del (MSH6)	NP_001268422.1:p.Leu336del
NM_001281494.1:c.1006_1008del (MSH6)	NP_001268423.1:p.Leu336del
XM_005264271.1:c.1615_1617del (MSH6)	XP_005264328.1:p.Leu539del
XM_011532798.1:c.1729_1731del (MSH6)	XP_011531100.1:p.Leu577del
XM_011532799.1:c.1615_1617del (MSH6)	XP_011531101.1:p.Leu539del
XM_011532800.1:c.1615_1617del (MSH6)	XP_011531102.1:p.Leu539del
XM_024452819.1:c.1912_1914del (MSH6)	XP_024308587.1:p.Leu638del
XM_024452820.1:c.1729_1731del (MSH6)	XP_024308588.1:p.Leu577del
XM_024452821.1:c.1615_1617del (MSH6)	XP_024308589.1:p.Leu539del
XM_024452822.1:c.1006_1008del (MSH6)	XP_024308590.1:p.Leu336del
NM_000179.3:c.1912_1914del (MSH6) MANE Select	NP_000170.1:p.Leu638del
NM_001281492.2:c.1522_1524del (MSH6)	NP_001268421.1:p.Leu508del
NM_001281493.2:c.1006_1008del (MSH6)	NP_001268422.1:p.Leu336del
NM_001281494.2:c.1006_1008del (MSH6)	NP_001268423.1:p.Leu336del