Canonical Allele Identifier: CA016443
Gene: MSH6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 89567
ClinVar RCV Id: RCV000075036
dbSNP Id: rs267608072

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798745_47798746del , CM000664.2:g.47798745_47798746del GRCh38
NC_000002.11:g.48025884_48025885del , CM000664.1:g.48025884_48025885del GRCh37
NC_000002.10:g.47879388_47879389del NCBI36
NG_007111.1:g.20599_20600del , LRG_219:g.20599_20600del

Transcript Alleles

HGVS Amino-acid change
NM_000179.2:c.762_763del , LRG_219t1:c.762_763del NP_000170.1:p.Ser256Ter
NM_001281492.1:c.372_373del VV NP_001268421.1:p.Ser126Ter
NM_001281493.1:c.-145_-144del VV NP_001268422.1:p.=
NM_001281494.1:c.-145_-144del VV NP_001268423.1:p.=
XM_005264271.1:c.465_466del XP_005264328.1:p.Ser157Ter
XM_011532798.1:c.579_580del XP_011531100.1:p.Ser195Ter
XM_011532799.1:c.465_466del XP_011531101.1:p.Ser157Ter
XM_011532800.1:c.465_466del XP_011531102.1:p.Ser157Ter
XM_024452819.1:c.762_763del XP_024308587.1:p.Ser256Ter
XM_024452820.1:c.579_580del XP_024308588.1:p.Ser195Ter
XM_024452821.1:c.465_466del XP_024308589.1:p.Ser157Ter
XM_024452822.1:c.-145_-144del XP_024308590.1:p.=
ENST00000234420.9:c.762_763del ENSP00000234420.4:p.Ser256Ter
ENST00000405808.5:c.170-9306_170-9305del ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+9248_*124+9249del ENSP00000402692.1:p.=
ENST00000445503.5:c.*109_*110del ENSP00000405294.1:p.=
ENST00000456246.1:c.*250_*251del ENSP00000410570.1:p.=
ENST00000538136.1:c.-145_-144del ENSP00000438580.1:p.=
ENST00000540021.5:c.372_373del ENSP00000446475.1:p.Ser126Ter
ENST00000614496.4:c.-145_-144del ENSP00000477844.1:p.=
ENST00000616033.4:c.759_760del ENSP00000480261.1:p.Ser255Ter
ENST00000622629.4:c.-2335_-2334del ENSP00000482078.1:p.=