Canonical Allele Identifier: CA2499216127

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1050027
• ClinVar RCV Id: RCV001356831
• dbSNP Id: rs2104503689

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804908_47805028del , CM000664.2:g.47804908_47805028del	GRCh38
NC_000002.11:g.48032047_48032167del , CM000664.1:g.48032047_48032167del	GRCh37
NC_000002.10:g.47885551_47885671del	NCBI36
NG_007111.1:g.26762_26882del , LRG_219:g.26762_26882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3142-2_3259+1del (MSH6)
ENST00000420813.6:c.3142-2_3259+1del (MSH6)
ENST00000455383.6:c.3142-2_3259+1del (MSH6)
ENST00000700004.2:c.3173-710_3173-590del (MSH6)	ENSP00000514752.2:n.3173-710_3173-590del
ENST00000699999.1:n.3523-2_3641del (MSH6)
ENST00000700000.1:c.1873-2_1990+1del (MSH6)
ENST00000700002.1:c.3445-2_3562+1del (MSH6)
ENST00000700003.1:c.894-2_1011+1del (MSH6)
ENST00000700004.1:c.2330-710_2330-590del (MSH6)	ENSP00000514752.1:n.2330-710_2330-590del
ENST00000700005.1:n.2290-2_2407+1del (MSH6)
ENST00000700006.1:n.3509_3629del (MSH6)
ENST00000700007.1:n.1444-2_1562del (MSH6)
ENST00000700008.1:n.1018-2_1136del (MSH6)
ENST00000700009.1:n.1017-2_1135del (MSH6)
ENST00000700010.1:n.848-2_965+1del (MSH6)
ENST00000700011.1:n.2141_2261del (MSH6)
ENST00000234420.11:c.3439-2_3556+1del (MSH6)
ENST00000540021.6:c.3049-2_3166+1del (MSH6)
ENST00000652107.1:c.3142-2_3259+1del (MSH6)
ENST00000673637.1:c.3142-2_3259+1del (MSH6)
ENST00000234420.9:c.3439-2_3556+1del (MSH6)
ENST00000405808.5:c.169+3167_169+3287del (FBXO11)	ENSP00000385127.1:n.169+3167_169+3287del
ENST00000434234.5:c.*124+2966_*124+3086del (FBXO11)	ENSP00000402692.1:n.*124+2966_*124+3086del
ENST00000445503.5:c.*2786-2_*2903+1del (MSH6)
ENST00000538136.1:c.2533-2_2650+1del (MSH6)
ENST00000540021.5:c.3049-2_3166+1del (MSH6)
ENST00000614496.4:c.2533-2_2650+1del (MSH6)
ENST00000622629.4:c.341_460+1del (MSH6)
NM_000179.2:c.3439-2_3556+1del , LRG_219t1:c.3439-2_3556+1del (MSH6)
NM_001281492.1:c.3049-2_3166+1del (MSH6)
NM_001281493.1:c.2533-2_2650+1del (MSH6)
NM_001281494.1:c.2533-2_2650+1del (MSH6)
XM_005264271.1:c.3142-2_3259+1del (MSH6)
XM_011532798.1:c.3256-2_3373+1del (MSH6)
XM_011532799.1:c.3142-2_3259+1del (MSH6)
XM_011532800.1:c.3142-2_3259+1del (MSH6)
XM_024452819.1:c.3439-2_3556+1del (MSH6)
XM_024452820.1:c.3256-2_3373+1del (MSH6)
XM_024452821.1:c.3142-2_3259+1del (MSH6)
XM_024452822.1:c.2533-2_2650+1del (MSH6)
NM_000179.3:c.3439-2_3556+1del (MSH6)
NM_001281492.2:c.3049-2_3166+1del (MSH6)
NM_001281493.2:c.2533-2_2650+1del (MSH6)
NM_001281494.2:c.2533-2_2650+1del (MSH6)