Canonical Allele Identifier: CA2496048727

Linked Data

dbSNP Id: rs1669337473

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799470_47799471insCAATTTCAA , CM000664.2:g.47799470_47799471insCAATTTCAA GRCh38
NC_000002.11:g.48026609_48026610insCAATTTCAA , CM000664.1:g.48026609_48026610insCAATTTCAA GRCh37
NC_000002.10:g.47880113_47880114insCAATTTCAA NCBI36
NG_007111.1:g.21324_21325insCAATTTCAA , LRG_219:g.21324_21325insCAATTTCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1190_1191insCAATTTCAA (MSH6) ENSP00000406248.2:p.Cys397_Arg398insAsnPh...
ENST00000420813.6:c.1190_1191insCAATTTCAA (MSH6) ENSP00000390382.2:p.Cys397_Arg398insAsnPh...
ENST00000455383.6:c.1190_1191insCAATTTCAA (MSH6) ENSP00000397484.2:p.Cys397_Arg398insAsnPh...
ENST00000700004.2:c.1487_1488insCAATTTCAA (MSH6) ENSP00000514752.2:p.Cys496_Arg497insAsnPh...
ENST00000699999.1:n.1571_1572insCAATTTCAA (MSH6)
ENST00000700000.1:c.1487_1488insCAATTTCAA (MSH6) ENSP00000514749.1:p.Cys496_Arg497insAsnPh...
ENST00000700002.1:c.1493_1494insCAATTTCAA (MSH6) ENSP00000514750.1:p.Cys498_Arg499insAsnPh...
ENST00000700003.1:c.627+3407_627+3408insCAATTTCAA (MSH6) ENSP00000514751.1:n.627+3407_627+3408insC...
ENST00000700004.1:c.644_645insCAATTTCAA (MSH6) ENSP00000514752.1:p.Cys215_Arg216insAsnPh...
ENST00000234420.11:c.1487_1488insCAATTTCAA (MSH6) MANE Select ENSP00000234420.5:p.Cys496_Arg497insAsnPh...
ENST00000540021.6:c.1097_1098insCAATTTCAA (MSH6) ENSP00000446475.1:p.Cys366_Arg367insAsnPh...
ENST00000652107.1:c.1190_1191insCAATTTCAA (MSH6) ENSP00000498629.1:p.Cys397_Arg398insAsnPh...
ENST00000673637.1:c.1190_1191insCAATTTCAA (MSH6) ENSP00000501310.1:p.Cys397_Arg398insAsnPh...
ENST00000234420.9:c.1487_1488insCAATTTCAA (MSH6) ENSP00000234420.4:p.Cys496_Arg497insAsnPh...
ENST00000405808.5:c.169+8724_169+8725insTTGAAATTG (FBXO11) ENSP00000385127.1:n.169+8724_169+8725insT...
ENST00000434234.5:c.*124+8523_*124+8524insTTGAAATTG (FBXO11) ENSP00000402692.1:n.*124+8523_*124+8524in...
ENST00000445503.5:c.*834_*835insCAATTTCAA (MSH6) ENSP00000405294.1:n.*834_*835insCAATTTCAA...
ENST00000538136.1:c.581_582insCAATTTCAA (MSH6) ENSP00000438580.1:p.Cys194_Arg195insAsnPh...
ENST00000540021.5:c.1097_1098insCAATTTCAA (MSH6) ENSP00000446475.1:p.Cys366_Arg367insAsnPh...
ENST00000614496.4:c.581_582insCAATTTCAA (MSH6) ENSP00000477844.1:p.Cys194_Arg195insAsnPh...
ENST00000616033.4:c.1484_1485insCAATTTCAA (MSH6) ENSP00000480261.1:p.Cys495_Arg496insAsnPh...
ENST00000622629.4:c.-1610_-1609insCAATTTCAA (MSH6) ENSP00000482078.1:n.-1610_-1609insCAATTTC...
NM_000179.2:c.1487_1488insCAATTTCAA , LRG_219t1:c.1487_1488insCAATTTCAA (MSH6) NP_000170.1:p.Cys496_Arg497insAsnPheAsn
NM_001281492.1:c.1097_1098insCAATTTCAA (MSH6) NP_001268421.1:p.Cys366_Arg367insAsnPheAs...
NM_001281493.1:c.581_582insCAATTTCAA (MSH6) NP_001268422.1:p.Cys194_Arg195insAsnPheAs...
NM_001281494.1:c.581_582insCAATTTCAA (MSH6) NP_001268423.1:p.Cys194_Arg195insAsnPheAs...
XM_005264271.1:c.1190_1191insCAATTTCAA (MSH6) XP_005264328.1:p.Cys397_Arg398insAsnPheAs...
XM_011532798.1:c.1304_1305insCAATTTCAA (MSH6) XP_011531100.1:p.Cys435_Arg436insAsnPheAs...
XM_011532799.1:c.1190_1191insCAATTTCAA (MSH6) XP_011531101.1:p.Cys397_Arg398insAsnPheAs...
XM_011532800.1:c.1190_1191insCAATTTCAA (MSH6) XP_011531102.1:p.Cys397_Arg398insAsnPheAs...
XM_024452819.1:c.1487_1488insCAATTTCAA (MSH6) XP_024308587.1:p.Cys496_Arg497insAsnPheAs...
XM_024452820.1:c.1304_1305insCAATTTCAA (MSH6) XP_024308588.1:p.Cys435_Arg436insAsnPheAs...
XM_024452821.1:c.1190_1191insCAATTTCAA (MSH6) XP_024308589.1:p.Cys397_Arg398insAsnPheAs...
XM_024452822.1:c.581_582insCAATTTCAA (MSH6) XP_024308590.1:p.Cys194_Arg195insAsnPheAs...
NM_000179.3:c.1487_1488insCAATTTCAA (MSH6) MANE Select NP_000170.1:p.Cys496_Arg497insAsnPheAsn
NM_001281492.2:c.1097_1098insCAATTTCAA (MSH6) NP_001268421.1:p.Cys366_Arg367insAsnPheAs...
NM_001281493.2:c.581_582insCAATTTCAA (MSH6) NP_001268422.1:p.Cys194_Arg195insAsnPheAs...
NM_001281494.2:c.581_582insCAATTTCAA (MSH6) NP_001268423.1:p.Cys194_Arg195insAsnPheAs...