Canonical Allele Identifier: CA2658966693

Gene: MSH6

Linked Data

• gnomAD v4: 2-47783854-GGGGGTGGGGCGAGAAGGGGAAGGCGCCCGGCCCACTTGGTGGGCGGGGCGGGGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783862_47783917del , CM000664.2:g.47783862_47783917del	GRCh38
NC_000002.11:g.48011001_48011056del , CM000664.1:g.48011001_48011056del	GRCh37
NC_000002.10:g.47864505_47864560del	NCBI36
NG_007111.1:g.5716_5771del , LRG_219:g.5716_5771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455383.6:c.-38+84_-38+139del	ENSP00000397484.2:n.-38+84_-38+139del
ENST00000700004.2:c.260+369_260+424del	ENSP00000514752.2:n.260+369_260+424del
ENST00000699999.1:n.344+369_344+424del
ENST00000700000.1:c.260+369_260+424del	ENSP00000514749.1:n.260+369_260+424del
ENST00000700001.1:n.332+369_332+424del
ENST00000700002.1:c.260+369_260+424del	ENSP00000514750.1:n.260+369_260+424del
ENST00000700003.1:c.260+369_260+424del	ENSP00000514751.1:n.260+369_260+424del
ENST00000234420.11:c.260+369_260+424del MANE Select	ENSP00000234420.5:n.260+369_260+424del
ENST00000540021.6:c.237+392_237+447del	ENSP00000446475.1:n.237+392_237+447del
ENST00000652107.1:c.-37-7065_-37-7010del	ENSP00000498629.1:n.-37-7065_-37-7010del
ENST00000673637.1:c.-38+631_-38+686del	ENSP00000501310.1:n.-38+631_-38+686del
ENST00000673922.1:n.349+369_349+424del
ENST00000234420.9:c.260+369_260+424del	ENSP00000234420.4:n.260+369_260+424del
ENST00000445503.5:c.260+369_260+424del	ENSP00000405294.1:n.260+369_260+424del
ENST00000455383.5:c.-38+84_-38+139del	ENSP00000397484.1:n.-38+84_-38+139del
ENST00000456246.1:c.260+369_260+424del	ENSP00000410570.1:n.260+369_260+424del
ENST00000493177.1:n.324+369_324+424del
ENST00000540021.5:c.237+392_237+447del	ENSP00000446475.1:n.237+392_237+447del
ENST00000606499.1:c.-37-7065_-37-7010del	ENSP00000475605.1:n.-37-7065_-37-7010del
ENST00000614496.4:c.-477+369_-477+424del	ENSP00000477844.1:n.-477+369_-477+424del
ENST00000616033.4:c.257+369_257+424del	ENSP00000480261.1:n.257+369_257+424del
ENST00000622629.4:c.-2837+369_-2837+424del	ENSP00000482078.1:n.-2837+369_-2837+424del
NM_000179.2:c.260+369_260+424del , LRG_219t1:c.260+369_260+424del	NP_000170.1:n.260+369_260+424del
NM_001281492.1:c.237+392_237+447del	NP_001268421.1:n.237+392_237+447del
NM_001281493.1:c.-477+369_-477+424del	NP_001268422.1:n.-477+369_-477+424del
XM_011532799.1:c.-38+84_-38+139del	XP_011531101.1:n.-38+84_-38+139del
XM_011532800.1:c.-38+631_-38+686del	XP_011531102.1:n.-38+631_-38+686del
XM_024452819.1:c.260+369_260+424del	XP_024308587.1:n.260+369_260+424del
XM_024452821.1:c.-38+84_-38+139del	XP_024308589.1:n.-38+84_-38+139del
XM_024452822.1:c.-477+369_-477+424del	XP_024308590.1:n.-477+369_-477+424del
NM_000179.3:c.260+369_260+424del MANE Select	NP_000170.1:n.260+369_260+424del
NM_001281492.2:c.237+392_237+447del	NP_001268421.1:n.237+392_237+447del
NM_001281493.2:c.-477+369_-477+424del	NP_001268422.1:n.-477+369_-477+424del