Canonical Allele Identifier: CA2749811839
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783836_47783910del , CM000664.2:g.47783836_47783910del GRCh38
NC_000002.11:g.48010975_48011049del , CM000664.1:g.48010975_48011049del GRCh37
NC_000002.10:g.47864479_47864553del NCBI36
NG_007111.1:g.5690_5764del , LRG_219:g.5690_5764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455383.6:c.-38+58_-38+132del ENSP00000397484.2:n.-38+58_-38+132del
ENST00000700004.2:c.260+343_260+417del ENSP00000514752.2:n.260+343_260+417del
ENST00000699999.1:n.344+343_344+417del
ENST00000700000.1:c.260+343_260+417del ENSP00000514749.1:n.260+343_260+417del
ENST00000700001.1:n.332+343_332+417del
ENST00000700002.1:c.260+343_260+417del ENSP00000514750.1:n.260+343_260+417del
ENST00000700003.1:c.260+343_260+417del ENSP00000514751.1:n.260+343_260+417del
ENST00000234420.11:c.260+343_260+417del MANE Select ENSP00000234420.5:n.260+343_260+417del
ENST00000540021.6:c.237+366_237+440del ENSP00000446475.1:n.237+366_237+440del
ENST00000652107.1:c.-37-7091_-37-7017del ENSP00000498629.1:n.-37-7091_-37-7017del
ENST00000673637.1:c.-38+605_-38+679del ENSP00000501310.1:n.-38+605_-38+679del
ENST00000673922.1:n.349+343_349+417del
ENST00000234420.9:c.260+343_260+417del ENSP00000234420.4:n.260+343_260+417del
ENST00000445503.5:c.260+343_260+417del ENSP00000405294.1:n.260+343_260+417del
ENST00000455383.5:c.-38+58_-38+132del ENSP00000397484.1:n.-38+58_-38+132del
ENST00000456246.1:c.260+343_260+417del ENSP00000410570.1:n.260+343_260+417del
ENST00000493177.1:n.324+343_324+417del
ENST00000540021.5:c.237+366_237+440del ENSP00000446475.1:n.237+366_237+440del
ENST00000606499.1:c.-37-7091_-37-7017del ENSP00000475605.1:n.-37-7091_-37-7017del
ENST00000614496.4:c.-477+343_-477+417del ENSP00000477844.1:n.-477+343_-477+417del
ENST00000616033.4:c.257+343_257+417del ENSP00000480261.1:n.257+343_257+417del
ENST00000622629.4:c.-2837+343_-2837+417del ENSP00000482078.1:n.-2837+343_-2837+417del
NM_000179.2:c.260+343_260+417del , LRG_219t1:c.260+343_260+417del NP_000170.1:n.260+343_260+417del
NM_001281492.1:c.237+366_237+440del NP_001268421.1:n.237+366_237+440del
NM_001281493.1:c.-477+343_-477+417del NP_001268422.1:n.-477+343_-477+417del
XM_011532799.1:c.-38+58_-38+132del XP_011531101.1:n.-38+58_-38+132del
XM_011532800.1:c.-38+605_-38+679del XP_011531102.1:n.-38+605_-38+679del
XM_024452819.1:c.260+343_260+417del XP_024308587.1:n.260+343_260+417del
XM_024452821.1:c.-38+58_-38+132del XP_024308589.1:n.-38+58_-38+132del
XM_024452822.1:c.-477+343_-477+417del XP_024308590.1:n.-477+343_-477+417del
NM_000179.3:c.260+343_260+417del MANE Select NP_000170.1:n.260+343_260+417del
NM_001281492.2:c.237+366_237+440del NP_001268421.1:n.237+366_237+440del
NM_001281493.2:c.-477+343_-477+417del NP_001268422.1:n.-477+343_-477+417del