Canonical Allele Identifier: CA2499216121

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1049210
• ClinVar RCV Id: RCV001355019
• dbSNP Id: rs2104536268

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806202_47806641del , CM000664.2:g.47806202_47806641del	GRCh38
NC_000002.11:g.48033341_48033780del , CM000664.1:g.48033341_48033780del	GRCh37
NC_000002.10:g.47886845_47887284del	NCBI36
NG_007111.1:g.28056_28495del , LRG_219:g.28056_28495del
NG_008397.1:g.104037_104476del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3350-2_3694del (MSH6)
ENST00000420813.6:c.3350-2_3694del (MSH6)
ENST00000455383.6:c.3350-2_3694del (MSH6)
ENST00000700004.2:c.3263-2_3607del (MSH6)
ENST00000699999.1:n.4321-2_4665del (MSH6)
ENST00000700000.1:c.2081-2_2425del (MSH6)
ENST00000700002.1:c.3653-2_3997del (MSH6)
ENST00000700003.1:c.1102-2_1446del (MSH6)
ENST00000700004.1:c.2420-2_2764del (MSH6)
ENST00000700005.1:n.2498-2_2842del (MSH6)
ENST00000700006.1:n.4803_5149del (MSH6)
ENST00000700007.1:n.2242-2_2586del (MSH6)
ENST00000700008.1:n.1816-2_2253del (MSH6)
ENST00000700009.1:n.2309_2655del (MSH6)
ENST00000700010.1:n.1056-2_1400del (MSH6)
ENST00000700011.1:n.2941-2_3285del (MSH6)
ENST00000682451.1:n.4109_4548del (FBXO11)
ENST00000684712.1:n.4371_4810del (FBXO11)
ENST00000234420.11:c.3647-2_3991del (MSH6)
ENST00000540021.6:c.3257-2_3601del (MSH6)
ENST00000652107.1:c.3350-2_3694del (MSH6)
ENST00000673637.1:c.3350-2_3694del (MSH6)
ENST00000234420.9:c.3647-2_3991del (MSH6)
ENST00000405808.5:c.169+1556_169+1995del (FBXO11)	ENSP00000385127.1:n.169+1556_169+1995del
ENST00000434234.5:c.*124+1355_*124+1794del (FBXO11)	ENSP00000402692.1:n.*124+1355_*124+1794de...
ENST00000445503.5:c.*2994-2_*3338del (MSH6)
ENST00000538136.1:c.2741-2_3085del (MSH6)
ENST00000540021.5:c.3257-2_3601del (MSH6)
ENST00000614496.4:c.2741-2_3085del (MSH6)
ENST00000622629.4:c.551-2_892del (MSH6)
NM_000179.2:c.3647-2_3991del , LRG_219t1:c.3647-2_3991del (MSH6)
NM_001281492.1:c.3257-2_3601del (MSH6)
NM_001281493.1:c.2741-2_3085del (MSH6)
NM_001281494.1:c.2741-2_3085del (MSH6)
XM_005264271.1:c.3350-2_3694del (MSH6)
XM_011532798.1:c.3464-2_3808del (MSH6)
XM_011532799.1:c.3350-2_3694del (MSH6)
XM_011532800.1:c.3350-2_3694del (MSH6)
XM_024452819.1:c.3647-2_4084del (MSH6)
XM_024452820.1:c.3464-2_3901del (MSH6)
XM_024452821.1:c.3350-2_3787del (MSH6)
XM_024452822.1:c.2741-2_3178del (MSH6)
NM_000179.3:c.3647-2_3991del (MSH6)
NM_001281492.2:c.3257-2_3601del (MSH6)
NM_001281493.2:c.2741-2_3085del (MSH6)
NM_001281494.2:c.2741-2_3085del (MSH6)