Canonical Allele Identifier: CA2580068072

Linked Data

ClinVar Variation Id: 1796253

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800788_47800790delinsCC , CM000664.2:g.47800788_47800790delinsCC GRCh38
NC_000002.11:g.48027927_48027929delinsCC , CM000664.1:g.48027927_48027929delinsCC GRCh37
NC_000002.10:g.47881431_47881433delinsCC NCBI36
NG_007111.1:g.22642_22644delinsCC , LRG_219:g.22642_22644delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2508_2510delinsCC (MSH6) ENSP00000406248.2:p.Asp837LeufsTer9
ENST00000420813.6:c.2508_2510delinsCC (MSH6) ENSP00000390382.2:p.Asp837LeufsTer9
ENST00000455383.6:c.2508_2510delinsCC (MSH6) ENSP00000397484.2:p.Asp837LeufsTer9
ENST00000700004.2:c.2805_2807delinsCC (MSH6) ENSP00000514752.2:p.Asp936LeufsTer9
ENST00000699999.1:n.2889_2891delinsCC (MSH6)
ENST00000700000.1:c.1606+1199_1606+1201delinsCC (MSH6) ENSP00000514749.1:n.1606+1199_1606+1201delinsCC
ENST00000700002.1:c.2811_2813delinsCC (MSH6) ENSP00000514750.1:p.Asp938LeufsTer9
ENST00000700003.1:c.628-2632_628-2630delinsCC (MSH6) ENSP00000514751.1:n.628-2632_628-2630delinsCC
ENST00000700004.1:c.1962_1964delinsCC (MSH6) ENSP00000514752.1:p.Asp655LeufsTer9
ENST00000234420.11:c.2805_2807delinsCC (MSH6) MANE Select ENSP00000234420.5:p.Asp936LeufsTer9
ENST00000540021.6:c.2415_2417delinsCC (MSH6) ENSP00000446475.1:p.Asp806LeufsTer9
ENST00000652107.1:c.2508_2510delinsCC (MSH6) ENSP00000498629.1:p.Asp837LeufsTer9
ENST00000673637.1:c.2508_2510delinsCC (MSH6) ENSP00000501310.1:p.Asp837LeufsTer9
ENST00000234420.9:c.2805_2807delinsCC (MSH6) ENSP00000234420.4:p.Asp936LeufsTer9
ENST00000405808.5:c.169+7405_169+7407delinsGG (FBXO11) ENSP00000385127.1:n.169+7405_169+7407delinsGG
ENST00000434234.5:c.*124+7204_*124+7206delinsGG (FBXO11) ENSP00000402692.1:n.*124+7204_*124+7206delinsGG
ENST00000445503.5:c.*2152_*2154delinsCC (MSH6) ENSP00000405294.1:n.*2152_*2154delinsCC
ENST00000538136.1:c.1899_1901delinsCC (MSH6) ENSP00000438580.1:p.Asp634LeufsTer9
ENST00000540021.5:c.2415_2417delinsCC (MSH6) ENSP00000446475.1:p.Asp806LeufsTer9
ENST00000614496.4:c.1899_1901delinsCC (MSH6) ENSP00000477844.1:p.Asp634LeufsTer9
ENST00000616033.4:c.2802_2804delinsCC (MSH6) ENSP00000480261.1:p.Asp935LeufsTer9
ENST00000622629.4:c.-292_-290delinsCC (MSH6) ENSP00000482078.1:n.-292_-290delinsCC
NM_000179.2:c.2805_2807delinsCC , LRG_219t1:c.2805_2807delinsCC (MSH6) NP_000170.1:p.Asp936LeufsTer9
NM_001281492.1:c.2415_2417delinsCC (MSH6) NP_001268421.1:p.Asp806LeufsTer9
NM_001281493.1:c.1899_1901delinsCC (MSH6) NP_001268422.1:p.Asp634LeufsTer9
NM_001281494.1:c.1899_1901delinsCC (MSH6) NP_001268423.1:p.Asp634LeufsTer9
XM_005264271.1:c.2508_2510delinsCC (MSH6) XP_005264328.1:p.Asp837LeufsTer9
XM_011532798.1:c.2622_2624delinsCC (MSH6) XP_011531100.1:p.Asp875LeufsTer9
XM_011532799.1:c.2508_2510delinsCC (MSH6) XP_011531101.1:p.Asp837LeufsTer9
XM_011532800.1:c.2508_2510delinsCC (MSH6) XP_011531102.1:p.Asp837LeufsTer9
XM_024452819.1:c.2805_2807delinsCC (MSH6) XP_024308587.1:p.Asp936LeufsTer9
XM_024452820.1:c.2622_2624delinsCC (MSH6) XP_024308588.1:p.Asp875LeufsTer9
XM_024452821.1:c.2508_2510delinsCC (MSH6) XP_024308589.1:p.Asp837LeufsTer9
XM_024452822.1:c.1899_1901delinsCC (MSH6) XP_024308590.1:p.Asp634LeufsTer9
NM_000179.3:c.2805_2807delinsCC (MSH6) MANE Select NP_000170.1:p.Asp936LeufsTer9
NM_001281492.2:c.2415_2417delinsCC (MSH6) NP_001268421.1:p.Asp806LeufsTer9
NM_001281493.2:c.1899_1901delinsCC (MSH6) NP_001268422.1:p.Asp634LeufsTer9
NM_001281494.2:c.1899_1901delinsCC (MSH6) NP_001268423.1:p.Asp634LeufsTer9