Canonical Allele Identifier: CA2496049117

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799913_47799930delinsAGGGAAAAGCTAAGTGAT , CM000664.2:g.47799913_47799930delinsAGGGAAAAGCTAAGTGAT GRCh38
NC_000002.11:g.48027052_48027069delinsAGGGAAAAGCTAAGTGAT , CM000664.1:g.48027052_48027069delinsAGGGAAAAGCTAAGTGAT GRCh37
NC_000002.10:g.47880556_47880573delinsAGGGAAAAGCTAAGTGAT NCBI36
NG_007111.1:g.21767_21784delinsAGGGAAAAGCTAAGTGAT , LRG_219:g.21767_21784delinsAGGGAAAAGCTAAGTGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000406248.2:p.Arg545=
ENST00000420813.6:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000390382.2:p.Arg545=
ENST00000455383.6:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000397484.2:p.Arg545=
ENST00000700004.2:c.1930_1947delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000514752.2:p.Arg644=
ENST00000699999.1:n.2014_2031delinsAGGGAAAAGCTAAGTGAT (MSH6)
ENST00000700000.1:c.1606+324_1606+341delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000514749.1:n.1606+324_1606+341delinsAGGGAAAAGCTAAGTGAT...
ENST00000700002.1:c.1936_1953delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000514750.1:p.Arg646=
ENST00000700003.1:c.628-3507_628-3490delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000514751.1:n.628-3507_628-3490delinsAGGGAAAAGCTAAGTGAT...
ENST00000700004.1:c.1087_1104delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000514752.1:p.Arg363=
ENST00000234420.11:c.1930_1947delinsAGGGAAAAGCTAAGTGAT (MSH6) MANE Select ENSP00000234420.5:p.Arg644=
ENST00000540021.6:c.1540_1557delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000446475.1:p.Arg514=
ENST00000652107.1:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000498629.1:p.Arg545=
ENST00000673637.1:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000501310.1:p.Arg545=
ENST00000234420.9:c.1930_1947delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000234420.4:p.Arg644=
ENST00000405808.5:c.169+8265_169+8282delinsATCACTTAGCTTTTCCCT (FBXO11) ENSP00000385127.1:n.169+8265_169+8282delinsATCACTTAGCTTTTCCCT...
ENST00000434234.5:c.*124+8064_*124+8081delinsATCACTTAGCTTTTCCCT (FBXO11) ENSP00000402692.1:n.*124+8064_*124+8081delinsATCACTTAGCTTTTCC...
ENST00000445503.5:c.*1277_*1294delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000405294.1:n.*1277_*1294delinsAGGGAAAAGCTAAGTGAT
ENST00000538136.1:c.1024_1041delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000438580.1:p.Arg342=
ENST00000540021.5:c.1540_1557delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000446475.1:p.Arg514=
ENST00000614496.4:c.1024_1041delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000477844.1:p.Arg342=
ENST00000616033.4:c.1927_1944delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000480261.1:p.Arg643=
ENST00000622629.4:c.-1167_-1150delinsAGGGAAAAGCTAAGTGAT (MSH6) ENSP00000482078.1:n.-1167_-1150delinsAGGGAAAAGCTAAGTGAT
NM_000179.2:c.1930_1947delinsAGGGAAAAGCTAAGTGAT , LRG_219t1:c.1930_1947delinsAGGGAAAAGCTAAGTGAT (MSH6) NP_000170.1:p.Arg644=
NM_001281492.1:c.1540_1557delinsAGGGAAAAGCTAAGTGAT (MSH6) NP_001268421.1:p.Arg514=
NM_001281493.1:c.1024_1041delinsAGGGAAAAGCTAAGTGAT (MSH6) NP_001268422.1:p.Arg342=
NM_001281494.1:c.1024_1041delinsAGGGAAAAGCTAAGTGAT (MSH6) NP_001268423.1:p.Arg342=
XM_005264271.1:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) XP_005264328.1:p.Arg545=
XM_011532798.1:c.1747_1764delinsAGGGAAAAGCTAAGTGAT (MSH6) XP_011531100.1:p.Arg583=
XM_011532799.1:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) XP_011531101.1:p.Arg545=
XM_011532800.1:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) XP_011531102.1:p.Arg545=
XM_024452819.1:c.1930_1947delinsAGGGAAAAGCTAAGTGAT (MSH6) XP_024308587.1:p.Arg644=
XM_024452820.1:c.1747_1764delinsAGGGAAAAGCTAAGTGAT (MSH6) XP_024308588.1:p.Arg583=
XM_024452821.1:c.1633_1650delinsAGGGAAAAGCTAAGTGAT (MSH6) XP_024308589.1:p.Arg545=
XM_024452822.1:c.1024_1041delinsAGGGAAAAGCTAAGTGAT (MSH6) XP_024308590.1:p.Arg342=
NM_000179.3:c.1930_1947delinsAGGGAAAAGCTAAGTGAT (MSH6) MANE Select NP_000170.1:p.Arg644=
NM_001281492.2:c.1540_1557delinsAGGGAAAAGCTAAGTGAT (MSH6) NP_001268421.1:p.Arg514=
NM_001281493.2:c.1024_1041delinsAGGGAAAAGCTAAGTGAT (MSH6) NP_001268422.1:p.Arg342=
NM_001281494.2:c.1024_1041delinsAGGGAAAAGCTAAGTGAT (MSH6) NP_001268423.1:p.Arg342=