Canonical Allele Identifier: CA016443

Linked Data

ClinVar Variation Id: 89567
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
ENST00000411819.2:c.465_466del (MSH6) ENSP00000406248.2:p.Ser157Ter
ENST00000420813.6:c.465_466del (MSH6) ENSP00000390382.2:p.Ser157Ter
ENST00000455383.6:c.465_466del (MSH6) ENSP00000397484.2:p.Ser157Ter
ENST00000700004.2:c.762_763del (MSH6) ENSP00000514752.2:p.Ser256Ter
ENST00000699999.1:n.846_847del (MSH6)
ENST00000700000.1:c.762_763del (MSH6) ENSP00000514749.1:p.Ser256Ter
ENST00000700002.1:c.768_769del (MSH6) ENSP00000514750.1:p.Ser258Ter
ENST00000700003.1:c.627+2682_627+2683del (MSH6) ENSP00000514751.1:n.627+2682_627+2683del
ENST00000234420.11:c.762_763del (MSH6) MANE Select ENSP00000234420.5:p.Ser256Ter
ENST00000540021.6:c.372_373del (MSH6) ENSP00000446475.1:p.Ser126Ter
ENST00000652107.1:c.465_466del (MSH6) ENSP00000498629.1:p.Ser157Ter
ENST00000673637.1:c.465_466del (MSH6) ENSP00000501310.1:p.Ser157Ter
ENST00000673922.1:n.484_485del (MSH6)
ENST00000234420.9:c.762_763del (MSH6) ENSP00000234420.4:p.Ser256Ter
ENST00000405808.5:c.170-9306_170-9305del (FBXO11) ENSP00000385127.1:n.170-9306_170-9305del
ENST00000434234.5:c.*124+9248_*124+9249del (FBXO11) ENSP00000402692.1:n.*124+9248_*124+9249de...
ENST00000445503.5:c.*109_*110del (MSH6) ENSP00000405294.1:n.*109_*110del
ENST00000456246.1:c.*250_*251del (MSH6) ENSP00000410570.1:n.*250_*251del
ENST00000538136.1:c.-145_-144del (MSH6) ENSP00000438580.1:n.-145_-144del
ENST00000540021.5:c.372_373del (MSH6) ENSP00000446475.1:p.Ser126Ter
ENST00000614496.4:c.-145_-144del (MSH6) ENSP00000477844.1:n.-145_-144del
ENST00000616033.4:c.759_760del (MSH6) ENSP00000480261.1:p.Ser255Ter
ENST00000622629.4:c.-2335_-2334del (MSH6) ENSP00000482078.1:n.-2335_-2334del
NM_000179.2:c.762_763del , LRG_219t1:c.762_763del (MSH6) NP_000170.1:p.Ser256Ter
NM_001281492.1:c.372_373del (MSH6) NP_001268421.1:p.Ser126Ter
NM_001281493.1:c.-145_-144del (MSH6) NP_001268422.1:n.-145_-144del
NM_001281494.1:c.-145_-144del (MSH6) NP_001268423.1:n.-145_-144del
XM_005264271.1:c.465_466del (MSH6) XP_005264328.1:p.Ser157Ter
XM_011532798.1:c.579_580del (MSH6) XP_011531100.1:p.Ser195Ter
XM_011532799.1:c.465_466del (MSH6) XP_011531101.1:p.Ser157Ter
XM_011532800.1:c.465_466del (MSH6) XP_011531102.1:p.Ser157Ter
XM_024452819.1:c.762_763del (MSH6) XP_024308587.1:p.Ser256Ter
XM_024452820.1:c.579_580del (MSH6) XP_024308588.1:p.Ser195Ter
XM_024452821.1:c.465_466del (MSH6) XP_024308589.1:p.Ser157Ter
XM_024452822.1:c.-145_-144del (MSH6) XP_024308590.1:n.-145_-144del
NM_000179.3:c.762_763del (MSH6) MANE Select NP_000170.1:p.Ser256Ter
NM_001281492.2:c.372_373del (MSH6) NP_001268421.1:p.Ser126Ter
NM_001281493.2:c.-145_-144del (MSH6) NP_001268422.1:n.-145_-144del
NM_001281494.2:c.-145_-144del (MSH6) NP_001268423.1:n.-145_-144del