Canonical Allele Identifier: CA2573106002

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806268_47806272dup , CM000664.2:g.47806268_47806272dup GRCh38
NC_000002.11:g.48033407_48033411dup , CM000664.1:g.48033407_48033411dup GRCh37
NC_000002.10:g.47886911_47886915dup NCBI36
NG_007111.1:g.28122_28126dup , LRG_219:g.28122_28126dup
NG_008397.1:g.104405_104409dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3414_3418dup (MSH6) ENSP00000406248.2:p.Ile1140ArgfsTer3
ENST00000420813.6:c.3414_3418dup (MSH6) ENSP00000390382.2:p.Ile1140ArgfsTer3
ENST00000455383.6:c.3414_3418dup (MSH6) ENSP00000397484.2:p.Ile1140ArgfsTer3
ENST00000700004.2:c.3327_3331dup (MSH6) ENSP00000514752.2:p.Ile1111ArgfsTer3
ENST00000699999.1:n.4385_4389dup (MSH6)
ENST00000700000.1:c.2145_2149dup (MSH6) ENSP00000514749.1:p.Ile717ArgfsTer3
ENST00000700002.1:c.3717_3721dup (MSH6) ENSP00000514750.1:p.Ile1241ArgfsTer3
ENST00000700003.1:c.1166_1170dup (MSH6) ENSP00000514751.1:n.1166_1170dup
ENST00000700004.1:c.2484_2488dup (MSH6) ENSP00000514752.1:p.Ile830ArgfsTer3
ENST00000700005.1:n.2562_2566dup (MSH6)
ENST00000700006.1:n.4869_4873dup (MSH6)
ENST00000700007.1:n.2306_2310dup (MSH6)
ENST00000700008.1:n.1880_1884dup (MSH6)
ENST00000700009.1:n.2375_2379dup (MSH6)
ENST00000700010.1:n.1120_1124dup (MSH6)
ENST00000700011.1:n.3005_3009dup (MSH6)
ENST00000682451.1:n.4477_4481dup (FBXO11)
ENST00000684712.1:n.4739_4743dup (FBXO11)
ENST00000234420.11:c.3711_3715dup (MSH6) MANE Select ENSP00000234420.5:p.Ile1239ArgfsTer3
ENST00000540021.6:c.3321_3325dup (MSH6) ENSP00000446475.1:p.Ile1109ArgfsTer3
ENST00000652107.1:c.3414_3418dup (MSH6) ENSP00000498629.1:p.Ile1140ArgfsTer3
ENST00000673637.1:c.3414_3418dup (MSH6) ENSP00000501310.1:p.Ile1140ArgfsTer3
ENST00000234420.9:c.3711_3715dup (MSH6) ENSP00000234420.4:p.Ile1239ArgfsTer3
ENST00000405808.5:c.169+1924_169+1928dup (FBXO11) ENSP00000385127.1:n.169+1924_169+1928dup
ENST00000434234.5:c.*124+1723_*124+1727dup (FBXO11) ENSP00000402692.1:n.*124+1723_*124+1727du...
ENST00000445503.5:c.*3058_*3062dup (MSH6) ENSP00000405294.1:n.*3058_*3062dup
ENST00000538136.1:c.2805_2809dup (MSH6) ENSP00000438580.1:p.Ile937ArgfsTer3
ENST00000540021.5:c.3321_3325dup (MSH6) ENSP00000446475.1:p.Ile1109ArgfsTer3
ENST00000614496.4:c.2805_2809dup (MSH6) ENSP00000477844.1:p.Ile937ArgfsTer3
ENST00000622629.4:c.615_619dup (MSH6) ENSP00000482078.1:p.Ile207ArgfsTer3
NM_000179.2:c.3711_3715dup , LRG_219t1:c.3711_3715dup (MSH6) NP_000170.1:p.Ile1239ArgfsTer3
NM_001281492.1:c.3321_3325dup (MSH6) NP_001268421.1:p.Ile1109ArgfsTer3
NM_001281493.1:c.2805_2809dup (MSH6) NP_001268422.1:p.Ile937ArgfsTer3
NM_001281494.1:c.2805_2809dup (MSH6) NP_001268423.1:p.Ile937ArgfsTer3
XM_005264271.1:c.3414_3418dup (MSH6) XP_005264328.1:p.Ile1140ArgfsTer3
XM_011532798.1:c.3528_3532dup (MSH6) XP_011531100.1:p.Ile1178ArgfsTer3
XM_011532799.1:c.3414_3418dup (MSH6) XP_011531101.1:p.Ile1140ArgfsTer3
XM_011532800.1:c.3414_3418dup (MSH6) XP_011531102.1:p.Ile1140ArgfsTer3
XM_024452819.1:c.3711_3715dup (MSH6) XP_024308587.1:p.Ile1239ArgfsTer3
XM_024452820.1:c.3528_3532dup (MSH6) XP_024308588.1:p.Ile1178ArgfsTer3
XM_024452821.1:c.3414_3418dup (MSH6) XP_024308589.1:p.Ile1140ArgfsTer3
XM_024452822.1:c.2805_2809dup (MSH6) XP_024308590.1:p.Ile937ArgfsTer3
NM_000179.3:c.3711_3715dup (MSH6) MANE Select NP_000170.1:p.Ile1239ArgfsTer3
NM_001281492.2:c.3321_3325dup (MSH6) NP_001268421.1:p.Ile1109ArgfsTer3
NM_001281493.2:c.2805_2809dup (MSH6) NP_001268422.1:p.Ile937ArgfsTer3
NM_001281494.2:c.2805_2809dup (MSH6) NP_001268423.1:p.Ile937ArgfsTer3