Canonical Allele Identifier: CA2580067289

Linked Data

ClinVar Variation Id: 2023785
ClinVar RCV Id: RCV002875937

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806254_47806256del , CM000664.2:g.47806254_47806256del GRCh38
NC_000002.11:g.48033393_48033395del , CM000664.1:g.48033393_48033395del GRCh37
NC_000002.10:g.47886897_47886899del NCBI36
NG_007111.1:g.28108_28110del , LRG_219:g.28108_28110del
NG_008397.1:g.104420_104422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3400_3402del (MSH6) ENSP00000406248.2:p.Lys1134del
ENST00000420813.6:c.3400_3402del (MSH6) ENSP00000390382.2:p.Lys1134del
ENST00000455383.6:c.3400_3402del (MSH6) ENSP00000397484.2:p.Lys1134del
ENST00000700004.2:c.3313_3315del (MSH6) ENSP00000514752.2:p.Lys1105del
ENST00000699999.1:n.4371_4373del (MSH6)
ENST00000700000.1:c.2131_2133del (MSH6) ENSP00000514749.1:p.Lys711del
ENST00000700002.1:c.3703_3705del (MSH6) ENSP00000514750.1:p.Lys1235del
ENST00000700003.1:c.1152_1154del (MSH6) ENSP00000514751.1:n.1152_1154del
ENST00000700004.1:c.2470_2472del (MSH6) ENSP00000514752.1:p.Lys824del
ENST00000700005.1:n.2548_2550del (MSH6)
ENST00000700006.1:n.4855_4857del (MSH6)
ENST00000700007.1:n.2292_2294del (MSH6)
ENST00000700008.1:n.1866_1868del (MSH6)
ENST00000700009.1:n.2361_2363del (MSH6)
ENST00000700010.1:n.1106_1108del (MSH6)
ENST00000700011.1:n.2991_2993del (MSH6)
ENST00000682451.1:n.4492_4494del (FBXO11)
ENST00000684712.1:n.4754_4756del (FBXO11)
ENST00000234420.11:c.3697_3699del (MSH6) MANE Select ENSP00000234420.5:p.Lys1233del
ENST00000540021.6:c.3307_3309del (MSH6) ENSP00000446475.1:p.Lys1103del
ENST00000652107.1:c.3400_3402del (MSH6) ENSP00000498629.1:p.Lys1134del
ENST00000673637.1:c.3400_3402del (MSH6) ENSP00000501310.1:p.Lys1134del
ENST00000234420.9:c.3697_3699del (MSH6) ENSP00000234420.4:p.Lys1233del
ENST00000405808.5:c.169+1939_169+1941del (FBXO11) ENSP00000385127.1:n.169+1939_169+1941del
ENST00000434234.5:c.*124+1738_*124+1740del (FBXO11) ENSP00000402692.1:n.*124+1738_*124+1740del
ENST00000445503.5:c.*3044_*3046del (MSH6) ENSP00000405294.1:n.*3044_*3046del
ENST00000538136.1:c.2791_2793del (MSH6) ENSP00000438580.1:p.Lys931del
ENST00000540021.5:c.3307_3309del (MSH6) ENSP00000446475.1:p.Lys1103del
ENST00000614496.4:c.2791_2793del (MSH6) ENSP00000477844.1:p.Lys931del
ENST00000622629.4:c.601_603del (MSH6) ENSP00000482078.1:p.Lys201del
NM_000179.2:c.3697_3699del , LRG_219t1:c.3697_3699del (MSH6) NP_000170.1:p.Lys1233del
NM_001281492.1:c.3307_3309del (MSH6) NP_001268421.1:p.Lys1103del
NM_001281493.1:c.2791_2793del (MSH6) NP_001268422.1:p.Lys931del
NM_001281494.1:c.2791_2793del (MSH6) NP_001268423.1:p.Lys931del
XM_005264271.1:c.3400_3402del (MSH6) XP_005264328.1:p.Lys1134del
XM_011532798.1:c.3514_3516del (MSH6) XP_011531100.1:p.Lys1172del
XM_011532799.1:c.3400_3402del (MSH6) XP_011531101.1:p.Lys1134del
XM_011532800.1:c.3400_3402del (MSH6) XP_011531102.1:p.Lys1134del
XM_024452819.1:c.3697_3699del (MSH6) XP_024308587.1:p.Lys1233del
XM_024452820.1:c.3514_3516del (MSH6) XP_024308588.1:p.Lys1172del
XM_024452821.1:c.3400_3402del (MSH6) XP_024308589.1:p.Lys1134del
XM_024452822.1:c.2791_2793del (MSH6) XP_024308590.1:p.Lys931del
NM_000179.3:c.3697_3699del (MSH6) MANE Select NP_000170.1:p.Lys1233del
NM_001281492.2:c.3307_3309del (MSH6) NP_001268421.1:p.Lys1103del
NM_001281493.2:c.2791_2793del (MSH6) NP_001268422.1:p.Lys931del
NM_001281494.2:c.2791_2793del (MSH6) NP_001268423.1:p.Lys931del