Canonical Allele Identifier: CA10582054

Linked Data

ClinVar Variation Id: 237141
dbSNP Id: rs878853709

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799553_47799554insC , CM000664.2:g.47799553_47799554insC GRCh38
NC_000002.11:g.48026692_48026693insC , CM000664.1:g.48026692_48026693insC GRCh37
NC_000002.10:g.47880196_47880197insC NCBI36
NG_007111.1:g.21407_21408insC , LRG_219:g.21407_21408insC

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1273_1274insC (MSH6) ENSP00000406248.2:p.Tyr425SerfsTer7
ENST00000420813.6:c.1273_1274insC (MSH6) ENSP00000390382.2:p.Tyr425SerfsTer7
ENST00000455383.6:c.1273_1274insC (MSH6) ENSP00000397484.2:p.Tyr425SerfsTer7
ENST00000700004.2:c.1570_1571insC (MSH6) ENSP00000514752.2:p.Tyr524SerfsTer7
ENST00000699999.1:n.1654_1655insC (MSH6)
ENST00000700000.1:c.1570_1571insC (MSH6) ENSP00000514749.1:p.Tyr524SerfsTer7
ENST00000700002.1:c.1576_1577insC (MSH6) ENSP00000514750.1:p.Tyr526SerfsTer7
ENST00000700003.1:c.627+3490_627+3491insC (MSH6) ENSP00000514751.1:n.627+3490_627+3491insC...
ENST00000700004.1:c.727_728insC (MSH6) ENSP00000514752.1:p.Tyr243SerfsTer7
ENST00000234420.11:c.1570_1571insC (MSH6) MANE Select ENSP00000234420.5:p.Tyr524SerfsTer7
ENST00000540021.6:c.1180_1181insC (MSH6) ENSP00000446475.1:p.Tyr394SerfsTer7
ENST00000652107.1:c.1273_1274insC (MSH6) ENSP00000498629.1:p.Tyr425SerfsTer7
ENST00000673637.1:c.1273_1274insC (MSH6) ENSP00000501310.1:p.Tyr425SerfsTer7
ENST00000234420.9:c.1570_1571insC (MSH6) ENSP00000234420.4:p.Tyr524SerfsTer7
ENST00000405808.5:c.169+8641_169+8642insG (FBXO11) ENSP00000385127.1:n.169+8641_169+8642insG...
ENST00000434234.5:c.*124+8440_*124+8441insG (FBXO11) ENSP00000402692.1:n.*124+8440_*124+8441in...
ENST00000445503.5:c.*917_*918insC (MSH6) ENSP00000405294.1:n.*917_*918insC
ENST00000538136.1:c.664_665insC (MSH6) ENSP00000438580.1:p.Tyr222SerfsTer7
ENST00000540021.5:c.1180_1181insC (MSH6) ENSP00000446475.1:p.Tyr394SerfsTer7
ENST00000614496.4:c.664_665insC (MSH6) ENSP00000477844.1:p.Tyr222SerfsTer7
ENST00000616033.4:c.1567_1568insC (MSH6) ENSP00000480261.1:p.Tyr523SerfsTer7
ENST00000622629.4:c.-1527_-1526insC (MSH6) ENSP00000482078.1:n.-1527_-1526insC
NM_000179.2:c.1570_1571insC , LRG_219t1:c.1570_1571insC (MSH6) NP_000170.1:p.Tyr524SerfsTer7
NM_001281492.1:c.1180_1181insC (MSH6) NP_001268421.1:p.Tyr394SerfsTer7
NM_001281493.1:c.664_665insC (MSH6) NP_001268422.1:p.Tyr222SerfsTer7
NM_001281494.1:c.664_665insC (MSH6) NP_001268423.1:p.Tyr222SerfsTer7
XM_005264271.1:c.1273_1274insC (MSH6) XP_005264328.1:p.Tyr425SerfsTer7
XM_011532798.1:c.1387_1388insC (MSH6) XP_011531100.1:p.Tyr463SerfsTer7
XM_011532799.1:c.1273_1274insC (MSH6) XP_011531101.1:p.Tyr425SerfsTer7
XM_011532800.1:c.1273_1274insC (MSH6) XP_011531102.1:p.Tyr425SerfsTer7
XM_024452819.1:c.1570_1571insC (MSH6) XP_024308587.1:p.Tyr524SerfsTer7
XM_024452820.1:c.1387_1388insC (MSH6) XP_024308588.1:p.Tyr463SerfsTer7
XM_024452821.1:c.1273_1274insC (MSH6) XP_024308589.1:p.Tyr425SerfsTer7
XM_024452822.1:c.664_665insC (MSH6) XP_024308590.1:p.Tyr222SerfsTer7
NM_000179.3:c.1570_1571insC (MSH6) MANE Select NP_000170.1:p.Tyr524SerfsTer7
NM_001281492.2:c.1180_1181insC (MSH6) NP_001268421.1:p.Tyr394SerfsTer7
NM_001281493.2:c.664_665insC (MSH6) NP_001268422.1:p.Tyr222SerfsTer7
NM_001281494.2:c.664_665insC (MSH6) NP_001268423.1:p.Tyr222SerfsTer7