Canonical Allele Identifier: CA2586969283

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800032_47800033insAGT , CM000664.2:g.47800032_47800033insAGT GRCh38
NC_000002.11:g.48027171_48027172insAGT , CM000664.1:g.48027171_48027172insAGT GRCh37
NC_000002.10:g.47880675_47880676insAGT NCBI36
NG_007111.1:g.21886_21887insAGT , LRG_219:g.21886_21887insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.1752_1753insAGT (MSH6) ENSP00000406248.2:p.Ala584_Leu585insSer
ENST00000420813.6:c.1752_1753insAGT (MSH6) ENSP00000390382.2:p.Ala584_Leu585insSer
ENST00000455383.6:c.1752_1753insAGT (MSH6) ENSP00000397484.2:p.Ala584_Leu585insSer
ENST00000700004.2:c.2049_2050insAGT (MSH6) ENSP00000514752.2:p.Ala683_Leu684insSer
ENST00000699999.1:n.2133_2134insAGT (MSH6)
ENST00000700000.1:c.1606+443_1606+444insAGT (MSH6) ENSP00000514749.1:n.1606+443_1606+444insAGT
ENST00000700002.1:c.2055_2056insAGT (MSH6) ENSP00000514750.1:p.Ala685_Leu686insSer
ENST00000700003.1:c.628-3388_628-3387insAGT (MSH6) ENSP00000514751.1:n.628-3388_628-3387insAGT
ENST00000700004.1:c.1206_1207insAGT (MSH6) ENSP00000514752.1:p.Ala402_Leu403insSer
ENST00000234420.11:c.2049_2050insAGT (MSH6) MANE Select ENSP00000234420.5:p.Ala683_Leu684insSer
ENST00000540021.6:c.1659_1660insAGT (MSH6) ENSP00000446475.1:p.Ala553_Leu554insSer
ENST00000652107.1:c.1752_1753insAGT (MSH6) ENSP00000498629.1:p.Ala584_Leu585insSer
ENST00000673637.1:c.1752_1753insAGT (MSH6) ENSP00000501310.1:p.Ala584_Leu585insSer
ENST00000234420.9:c.2049_2050insAGT (MSH6) ENSP00000234420.4:p.Ala683_Leu684insSer
ENST00000405808.5:c.169+8163_169+8164insCTA (FBXO11) ENSP00000385127.1:n.169+8163_169+8164insCTA
ENST00000434234.5:c.*124+7962_*124+7963insCTA (FBXO11) ENSP00000402692.1:n.*124+7962_*124+7963insCTA
ENST00000445503.5:c.*1396_*1397insAGT (MSH6) ENSP00000405294.1:n.*1396_*1397insAGT
ENST00000538136.1:c.1143_1144insAGT (MSH6) ENSP00000438580.1:p.Ala381_Leu382insSer
ENST00000540021.5:c.1659_1660insAGT (MSH6) ENSP00000446475.1:p.Ala553_Leu554insSer
ENST00000614496.4:c.1143_1144insAGT (MSH6) ENSP00000477844.1:p.Ala381_Leu382insSer
ENST00000616033.4:c.2046_2047insAGT (MSH6) ENSP00000480261.1:p.Ala682_Leu683insSer
ENST00000622629.4:c.-1048_-1047insAGT (MSH6) ENSP00000482078.1:n.-1048_-1047insAGT
NM_000179.2:c.2049_2050insAGT , LRG_219t1:c.2049_2050insAGT (MSH6) NP_000170.1:p.Ala683_Leu684insSer
NM_001281492.1:c.1659_1660insAGT (MSH6) NP_001268421.1:p.Ala553_Leu554insSer
NM_001281493.1:c.1143_1144insAGT (MSH6) NP_001268422.1:p.Ala381_Leu382insSer
NM_001281494.1:c.1143_1144insAGT (MSH6) NP_001268423.1:p.Ala381_Leu382insSer
XM_005264271.1:c.1752_1753insAGT (MSH6) XP_005264328.1:p.Ala584_Leu585insSer
XM_011532798.1:c.1866_1867insAGT (MSH6) XP_011531100.1:p.Ala622_Leu623insSer
XM_011532799.1:c.1752_1753insAGT (MSH6) XP_011531101.1:p.Ala584_Leu585insSer
XM_011532800.1:c.1752_1753insAGT (MSH6) XP_011531102.1:p.Ala584_Leu585insSer
XM_024452819.1:c.2049_2050insAGT (MSH6) XP_024308587.1:p.Ala683_Leu684insSer
XM_024452820.1:c.1866_1867insAGT (MSH6) XP_024308588.1:p.Ala622_Leu623insSer
XM_024452821.1:c.1752_1753insAGT (MSH6) XP_024308589.1:p.Ala584_Leu585insSer
XM_024452822.1:c.1143_1144insAGT (MSH6) XP_024308590.1:p.Ala381_Leu382insSer
NM_000179.3:c.2049_2050insAGT (MSH6) MANE Select NP_000170.1:p.Ala683_Leu684insSer
NM_001281492.2:c.1659_1660insAGT (MSH6) NP_001268421.1:p.Ala553_Leu554insSer
NM_001281493.2:c.1143_1144insAGT (MSH6) NP_001268422.1:p.Ala381_Leu382insSer
NM_001281494.2:c.1143_1144insAGT (MSH6) NP_001268423.1:p.Ala381_Leu382insSer