Canonical Allele Identifier: CA2496038355
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783571_47783572delinsAG , CM000664.2:g.47783571_47783572delinsAG GRCh38
NC_000002.11:g.48010710_48010711delinsAG , CM000664.1:g.48010710_48010711delinsAG GRCh37
NC_000002.10:g.47864214_47864215delinsAG NCBI36
NG_007111.1:g.5425_5426delinsAG , LRG_219:g.5425_5426delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.260+78_260+79delinsAG ENSP00000514752.2:n.260+78_260+79delinsAG
ENST00000699999.1:n.344+78_344+79delinsAG
ENST00000700000.1:c.260+78_260+79delinsAG ENSP00000514749.1:n.260+78_260+79delinsAG
ENST00000700001.1:n.332+78_332+79delinsAG
ENST00000700002.1:c.260+78_260+79delinsAG ENSP00000514750.1:n.260+78_260+79delinsAG
ENST00000700003.1:c.260+78_260+79delinsAG ENSP00000514751.1:n.260+78_260+79delinsAG
ENST00000234420.11:c.260+78_260+79delinsAG MANE Select ENSP00000234420.5:n.260+78_260+79delinsAG
ENST00000540021.6:c.237+101_237+102delinsAG ENSP00000446475.1:n.237+101_237+102delinsAG
ENST00000652107.1:c.-37-7356_-37-7355delinsAG ENSP00000498629.1:n.-37-7356_-37-7355delinsAG
ENST00000673637.1:c.-38+340_-38+341delinsAG ENSP00000501310.1:n.-38+340_-38+341delinsAG
ENST00000673922.1:n.349+78_349+79delinsAG
ENST00000234420.9:c.260+78_260+79delinsAG ENSP00000234420.4:n.260+78_260+79delinsAG
ENST00000445503.5:c.260+78_260+79delinsAG ENSP00000405294.1:n.260+78_260+79delinsAG
ENST00000456246.1:c.260+78_260+79delinsAG ENSP00000410570.1:n.260+78_260+79delinsAG
ENST00000493177.1:n.324+78_324+79delinsAG
ENST00000540021.5:c.237+101_237+102delinsAG ENSP00000446475.1:n.237+101_237+102delinsAG
ENST00000606499.1:c.-37-7356_-37-7355delinsAG ENSP00000475605.1:n.-37-7356_-37-7355delinsAG
ENST00000614496.4:c.-477+78_-477+79delinsAG ENSP00000477844.1:n.-477+78_-477+79delinsAG
ENST00000616033.4:c.257+78_257+79delinsAG ENSP00000480261.1:n.257+78_257+79delinsAG
ENST00000622629.4:c.-2837+78_-2837+79delinsAG ENSP00000482078.1:n.-2837+78_-2837+79delinsAG
NM_000179.2:c.260+78_260+79delinsAG , LRG_219t1:c.260+78_260+79delinsAG NP_000170.1:n.260+78_260+79delinsAG
NM_001281492.1:c.237+101_237+102delinsAG NP_001268421.1:n.237+101_237+102delinsAG
NM_001281493.1:c.-477+78_-477+79delinsAG NP_001268422.1:n.-477+78_-477+79delinsAG
XM_011532800.1:c.-38+340_-38+341delinsAG XP_011531102.1:n.-38+340_-38+341delinsAG
XM_024452819.1:c.260+78_260+79delinsAG XP_024308587.1:n.260+78_260+79delinsAG
XM_024452822.1:c.-477+78_-477+79delinsAG XP_024308590.1:n.-477+78_-477+79delinsAG
NM_000179.3:c.260+78_260+79delinsAG MANE Select NP_000170.1:n.260+78_260+79delinsAG
NM_001281492.2:c.237+101_237+102delinsAG NP_001268421.1:n.237+101_237+102delinsAG
NM_001281493.2:c.-477+78_-477+79delinsAG NP_001268422.1:n.-477+78_-477+79delinsAG