Canonical Allele Identifier: CA2580067583

Linked Data

ClinVar Variation Id: 2048900
ClinVar RCV Id: RCV002932118

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806772_47806806dup , CM000664.2:g.47806772_47806806dup GRCh38
NC_000002.11:g.48033911_48033945dup , CM000664.1:g.48033911_48033945dup GRCh37
NC_000002.10:g.47887415_47887449dup NCBI36
NG_007111.1:g.28626_28660dup , LRG_219:g.28626_28660dup
NG_008397.1:g.103871_103905dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3705-7_3732dup (MSH6)
ENST00000420813.6:c.3705-7_3732dup (MSH6)
ENST00000455383.6:c.3705-7_3732dup (MSH6)
ENST00000700004.2:c.3618-7_3645dup (MSH6)
ENST00000699999.1:n.4676-7_4703dup (MSH6)
ENST00000700000.1:c.2436-7_2463dup (MSH6)
ENST00000700002.1:c.4008-7_4035dup (MSH6)
ENST00000700003.1:c.1457-7_1484dup (MSH6)
ENST00000700004.1:c.2775-7_2802dup (MSH6)
ENST00000700005.1:n.2973_3007dup (MSH6)
ENST00000700007.1:n.2597-7_2624dup (MSH6)
ENST00000700008.1:n.2264-7_2291dup (MSH6)
ENST00000700009.1:n.2666-7_2693dup (MSH6)
ENST00000700010.1:n.1411-7_1438dup (MSH6)
ENST00000700011.1:n.3296-7_3323dup (MSH6)
ENST00000682451.1:n.3943_3977dup (FBXO11)
ENST00000684712.1:n.4205_4239dup (FBXO11)
ENST00000234420.11:c.4002-7_4029dup (MSH6)
ENST00000540021.6:c.3612-7_3639dup (MSH6)
ENST00000652107.1:c.3705-7_3732dup (MSH6)
ENST00000673637.1:c.3705-7_3732dup (MSH6)
ENST00000234420.9:c.4002-7_4029dup (MSH6)
ENST00000405808.5:c.169+1390_169+1424dup (FBXO11) ENSP00000385127.1:n.169+1390_169+1424dup
ENST00000434234.5:c.*124+1189_*124+1223dup (FBXO11) ENSP00000402692.1:n.*124+1189_*124+1223dup
ENST00000445503.5:c.*3349-7_*3376dup (MSH6)
ENST00000465204.5:n.3105_3139dup (FBXO11)
ENST00000538136.1:c.3096-7_3123dup (MSH6)
ENST00000540021.5:c.3612-7_3639dup (MSH6)
ENST00000614496.4:c.3096-7_3123dup (MSH6)
ENST00000622629.4:c.903-7_930dup (MSH6)
NM_000179.2:c.4002-7_4029dup , LRG_219t1:c.4002-7_4029dup (MSH6)
NM_001281492.1:c.3612-7_3639dup (MSH6)
NM_001281493.1:c.3096-7_3123dup (MSH6)
NM_001281494.1:c.3096-7_3123dup (MSH6)
XM_005264271.1:c.3705-7_3732dup (MSH6)
XM_011532798.1:c.3819-7_3846dup (MSH6)
XM_011532799.1:c.3705-7_3732dup (MSH6)
XM_011532800.1:c.3705-7_3732dup (MSH6)
XM_024452819.1:c.4095-7_4122dup (MSH6)
XM_024452820.1:c.3912-7_3939dup (MSH6)
XM_024452821.1:c.3798-7_3825dup (MSH6)
XM_024452822.1:c.3189-7_3216dup (MSH6)
NM_000179.3:c.4002-7_4029dup (MSH6)
NM_001281492.2:c.3612-7_3639dup (MSH6)
NM_001281493.2:c.3096-7_3123dup (MSH6)
NM_001281494.2:c.3096-7_3123dup (MSH6)