Canonical Allele Identifier: CA330569

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89462
• ClinVar RCV Id: RCV000074930
• dbSNP Id: rs587779291
• MyVariant Identifiers: chr2:g.48033494_48033523del (hg19) ; chr2:g.47806355_47806384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806355_47806384del , CM000664.2:g.47806355_47806384del	GRCh38
NC_000002.11:g.48033494_48033523del , CM000664.1:g.48033494_48033523del	GRCh37
NC_000002.10:g.47886998_47887027del	NCBI36
NG_007111.1:g.28209_28238del , LRG_219:g.28209_28238del
NG_008397.1:g.104295_104324del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3501_3504+26del (MSH6)
ENST00000420813.6:c.3501_3504+26del (MSH6)
ENST00000455383.6:c.3501_3504+26del (MSH6)
ENST00000700004.2:c.3414_3417+26del (MSH6)
ENST00000699999.1:n.4472_4475+26del (MSH6)
ENST00000700000.1:c.2232_2235+26del (MSH6)
ENST00000700002.1:c.3804_3807+26del (MSH6)
ENST00000700003.1:c.1253_1256+26del (MSH6)
ENST00000700004.1:c.2571_2574+26del (MSH6)
ENST00000700005.1:n.2649_2652+26del (MSH6)
ENST00000700006.1:n.4956_4959+26del (MSH6)
ENST00000700007.1:n.2393_2396+26del (MSH6)
ENST00000700008.1:n.1967_1996del (MSH6)
ENST00000700009.1:n.2462_2465+26del (MSH6)
ENST00000700010.1:n.1207_1210+26del (MSH6)
ENST00000700011.1:n.3092_3095+26del (MSH6)
ENST00000682451.1:n.4367_4396del (FBXO11)
ENST00000684712.1:n.4629_4658del (FBXO11)
ENST00000234420.11:c.3798_3801+26del (MSH6)
ENST00000540021.6:c.3408_3411+26del (MSH6)
ENST00000652107.1:c.3501_3504+26del (MSH6)
ENST00000673637.1:c.3501_3504+26del (MSH6)
ENST00000234420.9:c.3798_3801+26del (MSH6)
ENST00000405808.5:c.169+1814_169+1843del (FBXO11)	ENSP00000385127.1:n.169+1814_169+1843del
ENST00000434234.5:c.*124+1613_*124+1642del (FBXO11)	ENSP00000402692.1:n.*124+1613_*124+1642de...
ENST00000445503.5:c.*3145_*3148+26del (MSH6)
ENST00000538136.1:c.2892_2895+26del (MSH6)
ENST00000540021.5:c.3408_3411+26del (MSH6)
ENST00000614496.4:c.2892_2895+26del (MSH6)
ENST00000622629.4:c.699_702+26del (MSH6)
NM_000179.2:c.3798_3801+26del , LRG_219t1:c.3798_3801+26del (MSH6)
NM_001281492.1:c.3408_3411+26del (MSH6)
NM_001281493.1:c.2892_2895+26del (MSH6)
NM_001281494.1:c.2892_2895+26del (MSH6)
XM_005264271.1:c.3501_3504+26del (MSH6)
XM_011532798.1:c.3615_3618+26del (MSH6)
XM_011532799.1:c.3501_3504+26del (MSH6)
XM_011532800.1:c.3501_3504+26del (MSH6)
XM_024452819.1:c.3798_3827del (MSH6)	XP_024308587.1:p.His1266_Pro1275del
XM_024452820.1:c.3615_3644del (MSH6)	XP_024308588.1:p.His1205_Pro1214del
XM_024452821.1:c.3501_3530del (MSH6)	XP_024308589.1:p.His1167_Pro1176del
XM_024452822.1:c.2892_2921del (MSH6)	XP_024308590.1:p.His964_Pro973del
NM_000179.3:c.3798_3801+26del (MSH6)
NM_001281492.2:c.3408_3411+26del (MSH6)
NM_001281493.2:c.2892_2895+26del (MSH6)
NM_001281494.2:c.2892_2895+26del (MSH6)