Canonical Allele Identifier: CA2586964848

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800916_47800917del , CM000664.2:g.47800916_47800917del GRCh38
NC_000002.11:g.48028055_48028056del , CM000664.1:g.48028055_48028056del GRCh37
NC_000002.10:g.47881559_47881560del NCBI36
NG_007111.1:g.22770_22771del , LRG_219:g.22770_22771del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2636_2637del (MSH6) ENSP00000406248.2:p.Gln879ProfsTer5
ENST00000420813.6:c.2636_2637del (MSH6) ENSP00000390382.2:p.Gln879ProfsTer5
ENST00000455383.6:c.2636_2637del (MSH6) ENSP00000397484.2:p.Gln879ProfsTer5
ENST00000700004.2:c.2933_2934del (MSH6) ENSP00000514752.2:p.Gln978ProfsTer5
ENST00000699999.1:n.3017_3018del (MSH6)
ENST00000700000.1:c.1606+1327_1606+1328del (MSH6) ENSP00000514749.1:n.1606+1327_1606+1328del
ENST00000700002.1:c.2939_2940del (MSH6) ENSP00000514750.1:p.Gln980ProfsTer5
ENST00000700003.1:c.628-2504_628-2503del (MSH6) ENSP00000514751.1:n.628-2504_628-2503del
ENST00000700004.1:c.2090_2091del (MSH6) ENSP00000514752.1:p.Gln697ProfsTer5
ENST00000234420.11:c.2933_2934del (MSH6) MANE Select ENSP00000234420.5:p.Gln978ProfsTer5
ENST00000540021.6:c.2543_2544del (MSH6) ENSP00000446475.1:p.Gln848ProfsTer5
ENST00000652107.1:c.2636_2637del (MSH6) ENSP00000498629.1:p.Gln879ProfsTer5
ENST00000673637.1:c.2636_2637del (MSH6) ENSP00000501310.1:p.Gln879ProfsTer5
ENST00000234420.9:c.2933_2934del (MSH6) ENSP00000234420.4:p.Gln978ProfsTer5
ENST00000405808.5:c.169+7278_169+7279del (FBXO11) ENSP00000385127.1:n.169+7278_169+7279del
ENST00000434234.5:c.*124+7077_*124+7078del (FBXO11) ENSP00000402692.1:n.*124+7077_*124+7078del
ENST00000445503.5:c.*2280_*2281del (MSH6) ENSP00000405294.1:n.*2280_*2281del
ENST00000538136.1:c.2027_2028del (MSH6) ENSP00000438580.1:p.Gln676ProfsTer5
ENST00000540021.5:c.2543_2544del (MSH6) ENSP00000446475.1:p.Gln848ProfsTer5
ENST00000614496.4:c.2027_2028del (MSH6) ENSP00000477844.1:p.Gln676ProfsTer5
ENST00000616033.4:c.2930_2931del (MSH6) ENSP00000480261.1:p.Gln977ProfsTer5
ENST00000622629.4:c.-164_-163del (MSH6) ENSP00000482078.1:n.-164_-163del
NM_000179.2:c.2933_2934del , LRG_219t1:c.2933_2934del (MSH6) NP_000170.1:p.Gln978ProfsTer5
NM_001281492.1:c.2543_2544del (MSH6) NP_001268421.1:p.Gln848ProfsTer5
NM_001281493.1:c.2027_2028del (MSH6) NP_001268422.1:p.Gln676ProfsTer5
NM_001281494.1:c.2027_2028del (MSH6) NP_001268423.1:p.Gln676ProfsTer5
XM_005264271.1:c.2636_2637del (MSH6) XP_005264328.1:p.Gln879ProfsTer5
XM_011532798.1:c.2750_2751del (MSH6) XP_011531100.1:p.Gln917ProfsTer5
XM_011532799.1:c.2636_2637del (MSH6) XP_011531101.1:p.Gln879ProfsTer5
XM_011532800.1:c.2636_2637del (MSH6) XP_011531102.1:p.Gln879ProfsTer5
XM_024452819.1:c.2933_2934del (MSH6) XP_024308587.1:p.Gln978ProfsTer5
XM_024452820.1:c.2750_2751del (MSH6) XP_024308588.1:p.Gln917ProfsTer5
XM_024452821.1:c.2636_2637del (MSH6) XP_024308589.1:p.Gln879ProfsTer5
XM_024452822.1:c.2027_2028del (MSH6) XP_024308590.1:p.Gln676ProfsTer5
NM_000179.3:c.2933_2934del (MSH6) MANE Select NP_000170.1:p.Gln978ProfsTer5
NM_001281492.2:c.2543_2544del (MSH6) NP_001268421.1:p.Gln848ProfsTer5
NM_001281493.2:c.2027_2028del (MSH6) NP_001268422.1:p.Gln676ProfsTer5
NM_001281494.2:c.2027_2028del (MSH6) NP_001268423.1:p.Gln676ProfsTer5