Canonical Allele Identifier: CA2499216110

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1076190
• ClinVar RCV Id: RCV001390008 ; RCV002413921 ; RCV003451687
• dbSNP Id: rs2104377567

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799922_47799931del , CM000664.2:g.47799922_47799931del	GRCh38
NC_000002.11:g.48027061_48027070del , CM000664.1:g.48027061_48027070del	GRCh37
NC_000002.10:g.47880565_47880574del	NCBI36
NG_007111.1:g.21776_21785del , LRG_219:g.21776_21785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1642_1651del (MSH6)	ENSP00000406248.2:p.Leu548AlafsTer4
ENST00000420813.6:c.1642_1651del (MSH6)	ENSP00000390382.2:p.Leu548AlafsTer4
ENST00000455383.6:c.1642_1651del (MSH6)	ENSP00000397484.2:p.Leu548AlafsTer4
ENST00000700004.2:c.1939_1948del (MSH6)	ENSP00000514752.2:p.Leu647AlafsTer4
ENST00000699999.1:n.2023_2032del (MSH6)
ENST00000700000.1:c.1606+333_1606+342del (MSH6)	ENSP00000514749.1:n.1606+333_1606+342del
ENST00000700002.1:c.1945_1954del (MSH6)	ENSP00000514750.1:p.Leu649AlafsTer4
ENST00000700003.1:c.628-3498_628-3489del (MSH6)	ENSP00000514751.1:n.628-3498_628-3489del
ENST00000700004.1:c.1096_1105del (MSH6)	ENSP00000514752.1:p.Leu366AlafsTer4
ENST00000234420.11:c.1939_1948del (MSH6) MANE Select	ENSP00000234420.5:p.Leu647AlafsTer4
ENST00000540021.6:c.1549_1558del (MSH6)	ENSP00000446475.1:p.Leu517AlafsTer4
ENST00000652107.1:c.1642_1651del (MSH6)	ENSP00000498629.1:p.Leu548AlafsTer4
ENST00000673637.1:c.1642_1651del (MSH6)	ENSP00000501310.1:p.Leu548AlafsTer4
ENST00000234420.9:c.1939_1948del (MSH6)	ENSP00000234420.4:p.Leu647AlafsTer4
ENST00000405808.5:c.169+8265_169+8274del (FBXO11)	ENSP00000385127.1:n.169+8265_169+8274del
ENST00000434234.5:c.*124+8064_*124+8073del (FBXO11)	ENSP00000402692.1:n.*124+8064_*124+8073del
ENST00000445503.5:c.*1286_*1295del (MSH6)	ENSP00000405294.1:n.*1286_*1295del
ENST00000538136.1:c.1033_1042del (MSH6)	ENSP00000438580.1:p.Leu345AlafsTer4
ENST00000540021.5:c.1549_1558del (MSH6)	ENSP00000446475.1:p.Leu517AlafsTer4
ENST00000614496.4:c.1033_1042del (MSH6)	ENSP00000477844.1:p.Leu345AlafsTer4
ENST00000616033.4:c.1936_1945del (MSH6)	ENSP00000480261.1:p.Leu646AlafsTer4
ENST00000622629.4:c.-1158_-1149del (MSH6)	ENSP00000482078.1:n.-1158_-1149del
NM_000179.2:c.1939_1948del , LRG_219t1:c.1939_1948del (MSH6)	NP_000170.1:p.Leu647AlafsTer4
NM_001281492.1:c.1549_1558del (MSH6)	NP_001268421.1:p.Leu517AlafsTer4
NM_001281493.1:c.1033_1042del (MSH6)	NP_001268422.1:p.Leu345AlafsTer4
NM_001281494.1:c.1033_1042del (MSH6)	NP_001268423.1:p.Leu345AlafsTer4
XM_005264271.1:c.1642_1651del (MSH6)	XP_005264328.1:p.Leu548AlafsTer4
XM_011532798.1:c.1756_1765del (MSH6)	XP_011531100.1:p.Leu586AlafsTer4
XM_011532799.1:c.1642_1651del (MSH6)	XP_011531101.1:p.Leu548AlafsTer4
XM_011532800.1:c.1642_1651del (MSH6)	XP_011531102.1:p.Leu548AlafsTer4
XM_024452819.1:c.1939_1948del (MSH6)	XP_024308587.1:p.Leu647AlafsTer4
XM_024452820.1:c.1756_1765del (MSH6)	XP_024308588.1:p.Leu586AlafsTer4
XM_024452821.1:c.1642_1651del (MSH6)	XP_024308589.1:p.Leu548AlafsTer4
XM_024452822.1:c.1033_1042del (MSH6)	XP_024308590.1:p.Leu345AlafsTer4
NM_000179.3:c.1939_1948del (MSH6) MANE Select	NP_000170.1:p.Leu647AlafsTer4
NM_001281492.2:c.1549_1558del (MSH6)	NP_001268421.1:p.Leu517AlafsTer4
NM_001281493.2:c.1033_1042del (MSH6)	NP_001268422.1:p.Leu345AlafsTer4
NM_001281494.2:c.1033_1042del (MSH6)	NP_001268423.1:p.Leu345AlafsTer4