Canonical Allele Identifier: CA009184
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 89223
dbSNP Id: rs267608050

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799767del , CM000664.2:g.47799767del GRCh38
NC_000002.11:g.48026906del , CM000664.1:g.48026906del GRCh37
NC_000002.10:g.47880410del NCBI36
NG_007111.1:g.21621del , LRG_219:g.21621del

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1784del MANE Select ENSP00000234420.5:p.Leu595TyrfsTer15
ENST00000540021.6:c.1394del ENSP00000446475.1:p.Leu465TyrfsTer15
ENST00000652107.1:c.1487del ENSP00000498629.1:p.Leu496TyrfsTer15
ENST00000673637.1:c.1487del ENSP00000501310.1:p.Leu496TyrfsTer15
ENST00000234420.9:c.1784del ENSP00000234420.4:p.Leu595TyrfsTer15
ENST00000405808.5:c.169+8431del ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8230del ENSP00000402692.1:p.=
ENST00000445503.5:c.*1131del ENSP00000405294.1:p.=
ENST00000538136.1:c.878del ENSP00000438580.1:p.Leu293TyrfsTer15
ENST00000540021.5:c.1394del ENSP00000446475.1:p.Leu465TyrfsTer15
ENST00000614496.4:c.878del ENSP00000477844.1:p.Leu293TyrfsTer15
ENST00000616033.4:c.1781del ENSP00000480261.1:p.Leu594TyrfsTer15
ENST00000622629.4:c.-1313del ENSP00000482078.1:p.=
NM_000179.2:c.1784del , LRG_219t1:c.1784del NP_000170.1:p.Leu595TyrfsTer15
NM_001281492.1:c.1394del NP_001268421.1:p.Leu465TyrfsTer15
NM_001281493.1:c.878del NP_001268422.1:p.Leu293TyrfsTer15
NM_001281494.1:c.878del NP_001268423.1:p.Leu293TyrfsTer15
XM_005264271.1:c.1487del XP_005264328.1:p.Leu496TyrfsTer15
XM_011532798.1:c.1601del XP_011531100.1:p.Leu534TyrfsTer15
XM_011532799.1:c.1487del XP_011531101.1:p.Leu496TyrfsTer15
XM_011532800.1:c.1487del XP_011531102.1:p.Leu496TyrfsTer15
XM_024452819.1:c.1784del XP_024308587.1:p.Leu595TyrfsTer15
XM_024452820.1:c.1601del XP_024308588.1:p.Leu534TyrfsTer15
XM_024452821.1:c.1487del XP_024308589.1:p.Leu496TyrfsTer15
XM_024452822.1:c.878del XP_024308590.1:p.Leu293TyrfsTer15
NM_000179.3:c.1784del MANE Select NP_000170.1:p.Leu595TyrfsTer15
NM_001281492.2:c.1394del NP_001268421.1:p.Leu465TyrfsTer15
NM_001281493.2:c.878del NP_001268422.1:p.Leu293TyrfsTer15
NM_001281494.2:c.878del NP_001268423.1:p.Leu293TyrfsTer15