Canonical Allele Identifier: CA913188063

Linked Data

ClinVar Variation Id: 631186
ClinVar RCV Id: RCV000777348
dbSNP Id: rs1558394674

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806639_47806719dup , CM000664.2:g.47806639_47806719dup GRCh38
NC_000002.11:g.48033778_48033858dup , CM000664.1:g.48033778_48033858dup GRCh37
NC_000002.10:g.47887282_47887362dup NCBI36
NG_007111.1:g.28493_28573dup , LRG_219:g.28493_28573dup
NG_008397.1:g.103957_104037dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3692_3705-60dup (MSH6)
ENST00000420813.6:c.3692_3705-60dup (MSH6)
ENST00000455383.6:c.3692_3705-60dup (MSH6)
ENST00000700004.2:c.3605_3618-60dup (MSH6)
ENST00000699999.1:n.4663_4676-60dup (MSH6)
ENST00000700000.1:c.2423_2436-60dup (MSH6)
ENST00000700002.1:c.3995_4008-60dup (MSH6)
ENST00000700003.1:c.1444_1457-60dup (MSH6)
ENST00000700004.1:c.2762_2775-60dup (MSH6)
ENST00000700005.1:n.2840_2920dup (MSH6)
ENST00000700006.1:n.5147_5227dup (MSH6)
ENST00000700007.1:n.2584_2597-60dup (MSH6)
ENST00000700008.1:n.2251_2264-60dup (MSH6)
ENST00000700009.1:n.2653_2666-60dup (MSH6)
ENST00000700010.1:n.1398_1411-60dup (MSH6)
ENST00000700011.1:n.3283_3296-60dup (MSH6)
ENST00000682451.1:n.4029_4109dup (FBXO11)
ENST00000684712.1:n.4291_4371dup (FBXO11)
ENST00000234420.11:c.3989_4002-60dup (MSH6)
ENST00000540021.6:c.3599_3612-60dup (MSH6)
ENST00000652107.1:c.3692_3705-60dup (MSH6)
ENST00000673637.1:c.3692_3705-60dup (MSH6)
ENST00000234420.9:c.3989_4002-60dup (MSH6)
ENST00000405808.5:c.169+1476_169+1556dup (FBXO11) ENSP00000385127.1:n.169+1476_169+1556dup
ENST00000434234.5:c.*124+1275_*124+1355dup (FBXO11) ENSP00000402692.1:n.*124+1275_*124+1355du...
ENST00000445503.5:c.*3336_*3349-60dup (MSH6)
ENST00000538136.1:c.3083_3096-60dup (MSH6)
ENST00000540021.5:c.3599_3612-60dup (MSH6)
ENST00000614496.4:c.3083_3096-60dup (MSH6)
ENST00000622629.4:c.890_903-60dup (MSH6)
NM_000179.2:c.3989_4002-60dup , LRG_219t1:c.3989_4002-60dup (MSH6)
NM_001281492.1:c.3599_3612-60dup (MSH6)
NM_001281493.1:c.3083_3096-60dup (MSH6)
NM_001281494.1:c.3083_3096-60dup (MSH6)
XM_005264271.1:c.3692_3705-60dup (MSH6)
XM_011532798.1:c.3806_3819-60dup (MSH6)
XM_011532799.1:c.3692_3705-60dup (MSH6)
XM_011532800.1:c.3692_3705-60dup (MSH6)
XM_024452819.1:c.4082_4095-60dup (MSH6)
XM_024452820.1:c.3899_3912-60dup (MSH6)
XM_024452821.1:c.3785_3798-60dup (MSH6)
XM_024452822.1:c.3176_3189-60dup (MSH6)
NM_000179.3:c.3989_4002-60dup (MSH6)
NM_001281492.2:c.3599_3612-60dup (MSH6)
NM_001281493.2:c.3083_3096-60dup (MSH6)
NM_001281494.2:c.3083_3096-60dup (MSH6)