Canonical Allele Identifier: CA011602

Linked Data

ClinVar Variation Id: 89339
dbSNP Id: rs267608042

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47801102_47801103del , CM000664.2:g.47801102_47801103del GRCh38
NC_000002.11:g.48028241_48028242del , CM000664.1:g.48028241_48028242del GRCh37
NC_000002.10:g.47881745_47881746del NCBI36
NG_007111.1:g.22956_22957del , LRG_219:g.22956_22957del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2822_2823del (MSH6) ENSP00000406248.2:p.Phe941Ter
ENST00000420813.6:c.2822_2823del (MSH6) ENSP00000390382.2:p.Phe941Ter
ENST00000455383.6:c.2822_2823del (MSH6) ENSP00000397484.2:p.Phe941Ter
ENST00000700004.2:c.3119_3120del (MSH6) ENSP00000514752.2:p.Phe1040Ter
ENST00000699999.1:n.3203_3204del (MSH6)
ENST00000700000.1:c.1606+1513_1606+1514del (MSH6) ENSP00000514749.1:n.1606+1513_1606+1514de...
ENST00000700002.1:c.3125_3126del (MSH6) ENSP00000514750.1:p.Phe1042Ter
ENST00000700003.1:c.628-2318_628-2317del (MSH6) ENSP00000514751.1:n.628-2318_628-2317del
ENST00000700004.1:c.2276_2277del (MSH6) ENSP00000514752.1:p.Phe759Ter
ENST00000234420.11:c.3119_3120del (MSH6) MANE Select ENSP00000234420.5:p.Phe1040Ter
ENST00000540021.6:c.2729_2730del (MSH6) ENSP00000446475.1:p.Phe910Ter
ENST00000652107.1:c.2822_2823del (MSH6) ENSP00000498629.1:p.Phe941Ter
ENST00000673637.1:c.2822_2823del (MSH6) ENSP00000501310.1:p.Phe941Ter
ENST00000234420.9:c.3119_3120del (MSH6) ENSP00000234420.4:p.Phe1040Ter
ENST00000405808.5:c.169+7093_169+7094del (FBXO11) ENSP00000385127.1:n.169+7093_169+7094del
ENST00000434234.5:c.*124+6892_*124+6893del (FBXO11) ENSP00000402692.1:n.*124+6892_*124+6893de...
ENST00000445503.5:c.*2466_*2467del (MSH6) ENSP00000405294.1:n.*2466_*2467del
ENST00000538136.1:c.2213_2214del (MSH6) ENSP00000438580.1:p.Phe738Ter
ENST00000540021.5:c.2729_2730del (MSH6) ENSP00000446475.1:p.Phe910Ter
ENST00000614496.4:c.2213_2214del (MSH6) ENSP00000477844.1:p.Phe738Ter
ENST00000616033.4:c.3116_3117del (MSH6) ENSP00000480261.1:p.Phe1039Ter
ENST00000622629.4:c.23_24del (MSH6) ENSP00000482078.1:p.Phe8Ter
NM_000179.2:c.3119_3120del , LRG_219t1:c.3119_3120del (MSH6) NP_000170.1:p.Phe1040Ter
NM_001281492.1:c.2729_2730del (MSH6) NP_001268421.1:p.Phe910Ter
NM_001281493.1:c.2213_2214del (MSH6) NP_001268422.1:p.Phe738Ter
NM_001281494.1:c.2213_2214del (MSH6) NP_001268423.1:p.Phe738Ter
XM_005264271.1:c.2822_2823del (MSH6) XP_005264328.1:p.Phe941Ter
XM_011532798.1:c.2936_2937del (MSH6) XP_011531100.1:p.Phe979Ter
XM_011532799.1:c.2822_2823del (MSH6) XP_011531101.1:p.Phe941Ter
XM_011532800.1:c.2822_2823del (MSH6) XP_011531102.1:p.Phe941Ter
XM_024452819.1:c.3119_3120del (MSH6) XP_024308587.1:p.Phe1040Ter
XM_024452820.1:c.2936_2937del (MSH6) XP_024308588.1:p.Phe979Ter
XM_024452821.1:c.2822_2823del (MSH6) XP_024308589.1:p.Phe941Ter
XM_024452822.1:c.2213_2214del (MSH6) XP_024308590.1:p.Phe738Ter
NM_000179.3:c.3119_3120del (MSH6) MANE Select NP_000170.1:p.Phe1040Ter
NM_001281492.2:c.2729_2730del (MSH6) NP_001268421.1:p.Phe910Ter
NM_001281493.2:c.2213_2214del (MSH6) NP_001268422.1:p.Phe738Ter
NM_001281494.2:c.2213_2214del (MSH6) NP_001268423.1:p.Phe738Ter