Canonical Allele Identifier: CA2586969279

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799892_47799896del , CM000664.2:g.47799892_47799896del GRCh38
NC_000002.11:g.48027031_48027035del , CM000664.1:g.48027031_48027035del GRCh37
NC_000002.10:g.47880535_47880539del NCBI36
NG_007111.1:g.21746_21750del , LRG_219:g.21746_21750del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1612_1616del (MSH6) ENSP00000406248.2:p.Leu538Ter
ENST00000420813.6:c.1612_1616del (MSH6) ENSP00000390382.2:p.Leu538Ter
ENST00000455383.6:c.1612_1616del (MSH6) ENSP00000397484.2:p.Leu538Ter
ENST00000700004.2:c.1909_1913del (MSH6) ENSP00000514752.2:p.Leu637Ter
ENST00000699999.1:n.1993_1997del (MSH6)
ENST00000700000.1:c.1606+303_1606+307del (MSH6) ENSP00000514749.1:n.1606+303_1606+307del
ENST00000700002.1:c.1915_1919del (MSH6) ENSP00000514750.1:p.Leu639Ter
ENST00000700003.1:c.628-3528_628-3524del (MSH6) ENSP00000514751.1:n.628-3528_628-3524del
ENST00000700004.1:c.1066_1070del (MSH6) ENSP00000514752.1:p.Leu356Ter
ENST00000234420.11:c.1909_1913del (MSH6) MANE Select ENSP00000234420.5:p.Leu637Ter
ENST00000540021.6:c.1519_1523del (MSH6) ENSP00000446475.1:p.Leu507Ter
ENST00000652107.1:c.1612_1616del (MSH6) ENSP00000498629.1:p.Leu538Ter
ENST00000673637.1:c.1612_1616del (MSH6) ENSP00000501310.1:p.Leu538Ter
ENST00000234420.9:c.1909_1913del (MSH6) ENSP00000234420.4:p.Leu637Ter
ENST00000405808.5:c.169+8301_169+8305del (FBXO11) ENSP00000385127.1:n.169+8301_169+8305del
ENST00000434234.5:c.*124+8100_*124+8104del (FBXO11) ENSP00000402692.1:n.*124+8100_*124+8104de...
ENST00000445503.5:c.*1256_*1260del (MSH6) ENSP00000405294.1:n.*1256_*1260del
ENST00000538136.1:c.1003_1007del (MSH6) ENSP00000438580.1:p.Leu335Ter
ENST00000540021.5:c.1519_1523del (MSH6) ENSP00000446475.1:p.Leu507Ter
ENST00000614496.4:c.1003_1007del (MSH6) ENSP00000477844.1:p.Leu335Ter
ENST00000616033.4:c.1906_1910del (MSH6) ENSP00000480261.1:p.Leu636Ter
ENST00000622629.4:c.-1188_-1184del (MSH6) ENSP00000482078.1:n.-1188_-1184del
NM_000179.2:c.1909_1913del , LRG_219t1:c.1909_1913del (MSH6) NP_000170.1:p.Leu637Ter
NM_001281492.1:c.1519_1523del (MSH6) NP_001268421.1:p.Leu507Ter
NM_001281493.1:c.1003_1007del (MSH6) NP_001268422.1:p.Leu335Ter
NM_001281494.1:c.1003_1007del (MSH6) NP_001268423.1:p.Leu335Ter
XM_005264271.1:c.1612_1616del (MSH6) XP_005264328.1:p.Leu538Ter
XM_011532798.1:c.1726_1730del (MSH6) XP_011531100.1:p.Leu576Ter
XM_011532799.1:c.1612_1616del (MSH6) XP_011531101.1:p.Leu538Ter
XM_011532800.1:c.1612_1616del (MSH6) XP_011531102.1:p.Leu538Ter
XM_024452819.1:c.1909_1913del (MSH6) XP_024308587.1:p.Leu637Ter
XM_024452820.1:c.1726_1730del (MSH6) XP_024308588.1:p.Leu576Ter
XM_024452821.1:c.1612_1616del (MSH6) XP_024308589.1:p.Leu538Ter
XM_024452822.1:c.1003_1007del (MSH6) XP_024308590.1:p.Leu335Ter
NM_000179.3:c.1909_1913del (MSH6) MANE Select NP_000170.1:p.Leu637Ter
NM_001281492.2:c.1519_1523del (MSH6) NP_001268421.1:p.Leu507Ter
NM_001281493.2:c.1003_1007del (MSH6) NP_001268422.1:p.Leu335Ter
NM_001281494.2:c.1003_1007del (MSH6) NP_001268423.1:p.Leu335Ter