Canonical Allele Identifier: CA2580067308

Linked Data

ClinVar Variation Id: 1734429
ClinVar RCV Id: RCV002349208

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806294_47806387dup , CM000664.2:g.47806294_47806387dup GRCh38
NC_000002.11:g.48033433_48033526dup , CM000664.1:g.48033433_48033526dup GRCh37
NC_000002.10:g.47886937_47887030dup NCBI36
NG_007111.1:g.28148_28241dup , LRG_219:g.28148_28241dup
NG_008397.1:g.104290_104383dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3440_3504+29dup (MSH6)
ENST00000420813.6:c.3440_3504+29dup (MSH6)
ENST00000455383.6:c.3440_3504+29dup (MSH6)
ENST00000700004.2:c.3353_3417+29dup (MSH6)
ENST00000699999.1:n.4411_4475+29dup (MSH6)
ENST00000700000.1:c.2171_2235+29dup (MSH6)
ENST00000700002.1:c.3743_3807+29dup (MSH6)
ENST00000700003.1:c.1192_1256+29dup (MSH6)
ENST00000700004.1:c.2510_2574+29dup (MSH6)
ENST00000700005.1:n.2588_2652+29dup (MSH6)
ENST00000700006.1:n.4895_4959+29dup (MSH6)
ENST00000700007.1:n.2332_2396+29dup (MSH6)
ENST00000700008.1:n.1906_1999dup (MSH6)
ENST00000700009.1:n.2401_2465+29dup (MSH6)
ENST00000700010.1:n.1146_1210+29dup (MSH6)
ENST00000700011.1:n.3031_3095+29dup (MSH6)
ENST00000682451.1:n.4362_4455dup (FBXO11)
ENST00000684712.1:n.4624_4717dup (FBXO11)
ENST00000234420.11:c.3737_3801+29dup (MSH6)
ENST00000540021.6:c.3347_3411+29dup (MSH6)
ENST00000652107.1:c.3440_3504+29dup (MSH6)
ENST00000673637.1:c.3440_3504+29dup (MSH6)
ENST00000234420.9:c.3737_3801+29dup (MSH6)
ENST00000405808.5:c.169+1809_169+1902dup (FBXO11) ENSP00000385127.1:n.169+1809_169+1902dup
ENST00000434234.5:c.*124+1608_*124+1701dup (FBXO11) ENSP00000402692.1:n.*124+1608_*124+1701du...
ENST00000445503.5:c.*3084_*3148+29dup (MSH6)
ENST00000538136.1:c.2831_2895+29dup (MSH6)
ENST00000540021.5:c.3347_3411+29dup (MSH6)
ENST00000614496.4:c.2831_2895+29dup (MSH6)
ENST00000622629.4:c.641_702+29dup (MSH6)
NM_000179.2:c.3737_3801+29dup , LRG_219t1:c.3737_3801+29dup (MSH6)
NM_001281492.1:c.3347_3411+29dup (MSH6)
NM_001281493.1:c.2831_2895+29dup (MSH6)
NM_001281494.1:c.2831_2895+29dup (MSH6)
XM_005264271.1:c.3440_3504+29dup (MSH6)
XM_011532798.1:c.3554_3618+29dup (MSH6)
XM_011532799.1:c.3440_3504+29dup (MSH6)
XM_011532800.1:c.3440_3504+29dup (MSH6)
XM_024452819.1:c.3737_3830dup (MSH6) XP_024308587.1:p.Arg1278AsnfsTer35
XM_024452820.1:c.3554_3647dup (MSH6) XP_024308588.1:p.Arg1217AsnfsTer35
XM_024452821.1:c.3440_3533dup (MSH6) XP_024308589.1:p.Arg1179AsnfsTer35
XM_024452822.1:c.2831_2924dup (MSH6) XP_024308590.1:p.Arg976AsnfsTer35
NM_000179.3:c.3737_3801+29dup (MSH6)
NM_001281492.2:c.3347_3411+29dup (MSH6)
NM_001281493.2:c.2831_2895+29dup (MSH6)
NM_001281494.2:c.2831_2895+29dup (MSH6)