Canonical Allele Identifier: CA658683212

Gene: MSH6

Linked Data

• ClinVar Variation Id: 491910
• ClinVar RCV Id: RCV000583469
• dbSNP Id: rs1553408486

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783499_47783506delinsT , CM000664.2:g.47783499_47783506delinsT	GRCh38
NC_000002.11:g.48010638_48010645delinsT , CM000664.1:g.48010638_48010645delinsT	GRCh37
NC_000002.10:g.47864142_47864149delinsT	NCBI36
NG_007111.1:g.5353_5360delinsT , LRG_219:g.5353_5360delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.260+6_260+13delinsT	ENSP00000514752.2:n.260+6_260+13delinsT
ENST00000699999.1:n.344+6_344+13delinsT
ENST00000700000.1:c.260+6_260+13delinsT	ENSP00000514749.1:n.260+6_260+13delinsT
ENST00000700001.1:n.332+6_332+13delinsT
ENST00000700002.1:c.260+6_260+13delinsT	ENSP00000514750.1:n.260+6_260+13delinsT
ENST00000700003.1:c.260+6_260+13delinsT	ENSP00000514751.1:n.260+6_260+13delinsT
ENST00000234420.11:c.260+6_260+13delinsT MANE Select	ENSP00000234420.5:n.260+6_260+13delinsT
ENST00000540021.6:c.237+29_237+36delinsT	ENSP00000446475.1:n.237+29_237+36delinsT
ENST00000652107.1:c.-37-7428_-37-7421delinsT	ENSP00000498629.1:n.-37-7428_-37-7421delinsT
ENST00000673637.1:c.-38+268_-38+275delinsT	ENSP00000501310.1:n.-38+268_-38+275delinsT
ENST00000673922.1:n.349+6_349+13delinsT
ENST00000234420.9:c.260+6_260+13delinsT	ENSP00000234420.4:n.260+6_260+13delinsT
ENST00000445503.5:c.260+6_260+13delinsT	ENSP00000405294.1:n.260+6_260+13delinsT
ENST00000456246.1:c.260+6_260+13delinsT	ENSP00000410570.1:n.260+6_260+13delinsT
ENST00000493177.1:n.324+6_324+13delinsT
ENST00000540021.5:c.237+29_237+36delinsT	ENSP00000446475.1:n.237+29_237+36delinsT
ENST00000606499.1:c.-37-7428_-37-7421delinsT	ENSP00000475605.1:n.-37-7428_-37-7421delinsT
ENST00000614496.4:c.-477+6_-477+13delinsT	ENSP00000477844.1:n.-477+6_-477+13delinsT
ENST00000616033.4:c.257+6_257+13delinsT	ENSP00000480261.1:n.257+6_257+13delinsT
ENST00000622629.4:c.-2837+6_-2837+13delinsT	ENSP00000482078.1:n.-2837+6_-2837+13delinsT
NM_000179.2:c.260+6_260+13delinsT , LRG_219t1:c.260+6_260+13delinsT	NP_000170.1:n.260+6_260+13delinsT
NM_001281492.1:c.237+29_237+36delinsT	NP_001268421.1:n.237+29_237+36delinsT
NM_001281493.1:c.-477+6_-477+13delinsT	NP_001268422.1:n.-477+6_-477+13delinsT
XM_011532800.1:c.-38+268_-38+275delinsT	XP_011531102.1:n.-38+268_-38+275delinsT
XM_024452819.1:c.260+6_260+13delinsT	XP_024308587.1:n.260+6_260+13delinsT
XM_024452822.1:c.-477+6_-477+13delinsT	XP_024308590.1:n.-477+6_-477+13delinsT
NM_000179.3:c.260+6_260+13delinsT MANE Select	NP_000170.1:n.260+6_260+13delinsT
NM_001281492.2:c.237+29_237+36delinsT	NP_001268421.1:n.237+29_237+36delinsT
NM_001281493.2:c.-477+6_-477+13delinsT	NP_001268422.1:n.-477+6_-477+13delinsT