Canonical Allele Identifier: CA2496038173
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1668125954

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783388_47783393dup , CM000664.2:g.47783388_47783393dup GRCh38
NC_000002.11:g.48010527_48010532dup , CM000664.1:g.48010527_48010532dup GRCh37
NC_000002.10:g.47864031_47864036dup NCBI36
NG_007111.1:g.5242_5247dup , LRG_219:g.5242_5247dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.155_160dup ENSP00000514752.2:p.Ala53_Gly54insGluAla
ENST00000699999.1:n.239_244dup
ENST00000700000.1:c.155_160dup ENSP00000514749.1:p.Ala53_Gly54insGluAla
ENST00000700001.1:n.227_232dup
ENST00000700002.1:c.155_160dup ENSP00000514750.1:p.Ala53_Gly54insGluAla
ENST00000700003.1:c.155_160dup ENSP00000514751.1:p.Ala53_Gly54insGluAla
ENST00000234420.11:c.155_160dup MANE Select ENSP00000234420.5:p.Ala53_Gly54insGluAla
ENST00000540021.6:c.155_160dup ENSP00000446475.1:p.Ala53_Gly54insGluAla
ENST00000652107.1:c.-37-7539_-37-7534dup ENSP00000498629.1:n.-37-7539_-37-7534dup
ENST00000673637.1:c.-38+157_-38+162dup ENSP00000501310.1:n.-38+157_-38+162dup
ENST00000673922.1:n.244_249dup
ENST00000234420.9:c.155_160dup ENSP00000234420.4:p.Ala53_Gly54insGluAla
ENST00000445503.5:c.155_160dup ENSP00000405294.1:p.Ala53_Gly54insGluAla
ENST00000456246.1:c.155_160dup ENSP00000410570.1:p.Ala53_Gly54insGluAla
ENST00000493177.1:n.219_224dup
ENST00000540021.5:c.155_160dup ENSP00000446475.1:p.Ala53_Gly54insGluAla
ENST00000606499.1:c.-37-7539_-37-7534dup ENSP00000475605.1:n.-37-7539_-37-7534dup
ENST00000614496.4:c.-582_-577dup ENSP00000477844.1:n.-582_-577dup
ENST00000616033.4:c.153_158dup ENSP00000480261.1:p.Trp53Ter
ENST00000622629.4:c.-2942_-2937dup ENSP00000482078.1:n.-2942_-2937dup
NM_000179.2:c.155_160dup , LRG_219t1:c.155_160dup NP_000170.1:p.Ala53_Gly54insGluAla
NM_001281492.1:c.155_160dup NP_001268421.1:p.Ala53_Gly54insGluAla
NM_001281493.1:c.-582_-577dup NP_001268422.1:n.-582_-577dup
XM_011532800.1:c.-38+157_-38+162dup XP_011531102.1:n.-38+157_-38+162dup
XM_024452819.1:c.155_160dup XP_024308587.1:p.Ala53_Gly54insGluAla
XM_024452822.1:c.-582_-577dup XP_024308590.1:n.-582_-577dup
NM_000179.3:c.155_160dup MANE Select NP_000170.1:p.Ala53_Gly54insGluAla
NM_001281492.2:c.155_160dup NP_001268421.1:p.Ala53_Gly54insGluAla
NM_001281493.2:c.-582_-577dup NP_001268422.1:n.-582_-577dup