Canonical Allele Identifier: CA2576961340

Gene: MSH6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783359_47783361del , CM000664.2:g.47783359_47783361del	GRCh38
NC_000002.11:g.48010498_48010500del , CM000664.1:g.48010498_48010500del	GRCh37
NC_000002.10:g.47864002_47864004del	NCBI36
NG_007111.1:g.5213_5215del , LRG_219:g.5213_5215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.126_128del	ENSP00000514752.2:p.Ser43del
ENST00000699999.1:n.210_212del
ENST00000700000.1:c.126_128del	ENSP00000514749.1:p.Ser43del
ENST00000700001.1:n.198_200del
ENST00000700002.1:c.126_128del	ENSP00000514750.1:p.Ser43del
ENST00000700003.1:c.126_128del	ENSP00000514751.1:p.Ser43del
ENST00000234420.11:c.126_128del MANE Select	ENSP00000234420.5:p.Ser43del
ENST00000540021.6:c.126_128del	ENSP00000446475.1:p.Ser43del
ENST00000652107.1:c.-37-7568_-37-7566del	ENSP00000498629.1:n.-37-7568_-37-7566del
ENST00000673637.1:c.-38+128_-38+130del	ENSP00000501310.1:n.-38+128_-38+130del
ENST00000673922.1:n.215_217del
ENST00000234420.9:c.126_128del	ENSP00000234420.4:p.Ser43del
ENST00000445503.5:c.126_128del	ENSP00000405294.1:p.Ser43del
ENST00000456246.1:c.126_128del	ENSP00000410570.1:p.Ser43del
ENST00000493177.1:n.190_192del
ENST00000540021.5:c.126_128del	ENSP00000446475.1:p.Ser43del
ENST00000606499.1:c.-37-7568_-37-7566del	ENSP00000475605.1:n.-37-7568_-37-7566del
ENST00000614496.4:c.-611_-609del	ENSP00000477844.1:n.-611_-609del
ENST00000616033.4:c.124_126del	ENSP00000480261.1:p.Phe42del
ENST00000622629.4:c.-2971_-2969del	ENSP00000482078.1:n.-2971_-2969del
NM_000179.2:c.126_128del , LRG_219t1:c.126_128del	NP_000170.1:p.Ser43del
NM_001281492.1:c.126_128del	NP_001268421.1:p.Ser43del
NM_001281493.1:c.-611_-609del	NP_001268422.1:n.-611_-609del
XM_011532800.1:c.-38+128_-38+130del	XP_011531102.1:n.-38+128_-38+130del
XM_024452819.1:c.126_128del	XP_024308587.1:p.Ser43del
XM_024452822.1:c.-611_-609del	XP_024308590.1:n.-611_-609del
NM_000179.3:c.126_128del MANE Select	NP_000170.1:p.Ser43del
NM_001281492.2:c.126_128del	NP_001268421.1:p.Ser43del
NM_001281493.2:c.-611_-609del	NP_001268422.1:n.-611_-609del