Canonical Allele Identifier: CA1030295426

Gene: MSH6

Linked Data

• gnomAD v3: 2-47783853-TGGGGGTGGGGCGAGAAGGGGAAGGCGCCCGGCCCACTTGGTGGGCGGGGCG-T
• gnomAD v4: 2-47783853-TGGGGGTGGGGCGAGAAGGGGAAGGCGCCCGGCCCACTTGGTGGGCGGGGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783859_47783909del , CM000664.2:g.47783859_47783909del	GRCh38
NC_000002.11:g.48010998_48011048del , CM000664.1:g.48010998_48011048del	GRCh37
NC_000002.10:g.47864502_47864552del	NCBI36
NG_007111.1:g.5713_5763del , LRG_219:g.5713_5763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455383.6:c.-38+81_-38+131del	ENSP00000397484.2:n.-38+81_-38+131del
ENST00000700004.2:c.260+366_260+416del	ENSP00000514752.2:n.260+366_260+416del
ENST00000699999.1:n.344+366_344+416del
ENST00000700000.1:c.260+366_260+416del	ENSP00000514749.1:n.260+366_260+416del
ENST00000700001.1:n.332+366_332+416del
ENST00000700002.1:c.260+366_260+416del	ENSP00000514750.1:n.260+366_260+416del
ENST00000700003.1:c.260+366_260+416del	ENSP00000514751.1:n.260+366_260+416del
ENST00000234420.11:c.260+366_260+416del MANE Select	ENSP00000234420.5:n.260+366_260+416del
ENST00000540021.6:c.237+389_237+439del	ENSP00000446475.1:n.237+389_237+439del
ENST00000652107.1:c.-37-7068_-37-7018del	ENSP00000498629.1:n.-37-7068_-37-7018del
ENST00000673637.1:c.-38+628_-38+678del	ENSP00000501310.1:n.-38+628_-38+678del
ENST00000673922.1:n.349+366_349+416del
ENST00000234420.9:c.260+366_260+416del	ENSP00000234420.4:n.260+366_260+416del
ENST00000445503.5:c.260+366_260+416del	ENSP00000405294.1:n.260+366_260+416del
ENST00000455383.5:c.-38+81_-38+131del	ENSP00000397484.1:n.-38+81_-38+131del
ENST00000456246.1:c.260+366_260+416del	ENSP00000410570.1:n.260+366_260+416del
ENST00000493177.1:n.324+366_324+416del
ENST00000540021.5:c.237+389_237+439del	ENSP00000446475.1:n.237+389_237+439del
ENST00000606499.1:c.-37-7068_-37-7018del	ENSP00000475605.1:n.-37-7068_-37-7018del
ENST00000614496.4:c.-477+366_-477+416del	ENSP00000477844.1:n.-477+366_-477+416del
ENST00000616033.4:c.257+366_257+416del	ENSP00000480261.1:n.257+366_257+416del
ENST00000622629.4:c.-2837+366_-2837+416del	ENSP00000482078.1:n.-2837+366_-2837+416del
NM_000179.2:c.260+366_260+416del , LRG_219t1:c.260+366_260+416del	NP_000170.1:n.260+366_260+416del
NM_001281492.1:c.237+389_237+439del	NP_001268421.1:n.237+389_237+439del
NM_001281493.1:c.-477+366_-477+416del	NP_001268422.1:n.-477+366_-477+416del
XM_011532799.1:c.-38+81_-38+131del	XP_011531101.1:n.-38+81_-38+131del
XM_011532800.1:c.-38+628_-38+678del	XP_011531102.1:n.-38+628_-38+678del
XM_024452819.1:c.260+366_260+416del	XP_024308587.1:n.260+366_260+416del
XM_024452821.1:c.-38+81_-38+131del	XP_024308589.1:n.-38+81_-38+131del
XM_024452822.1:c.-477+366_-477+416del	XP_024308590.1:n.-477+366_-477+416del
NM_000179.3:c.260+366_260+416del MANE Select	NP_000170.1:n.260+366_260+416del
NM_001281492.2:c.237+389_237+439del	NP_001268421.1:n.237+389_237+439del
NM_001281493.2:c.-477+366_-477+416del	NP_001268422.1:n.-477+366_-477+416del