Canonical Allele Identifier: CA2499216078

Gene: MSH6

Linked Data

• ClinVar Variation Id: 1048851
• ClinVar RCV Id: RCV001354186

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783232_47787317del , CM000664.2:g.47783232_47787317del	GRCh38
NC_000002.11:g.48010371_48014456del , CM000664.1:g.48010371_48014456del	GRCh37
NC_000002.10:g.47863875_47867960del	NCBI36
NG_007111.1:g.5086_9171del , LRG_219:g.5086_9171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.-2_261-3610del
ENST00000699999.1:n.83_345-3610del
ENST00000700000.1:c.-2_261-3610del
ENST00000700001.1:n.71_333-3610del
ENST00000700002.1:c.-2_261-3610del
ENST00000234420.11:c.-2_261-3610del
ENST00000540021.6:c.-2_237+3847del
ENST00000652107.1:c.-37-7695_-37-3610del	ENSP00000498629.1:n.-37-7695_-37-3610del
ENST00000673637.1:c.-38+1_-37-3610del	ENSP00000501310.1:n.-38+1_-37-3610del
ENST00000673922.1:n.88_349+3824del
ENST00000234420.9:c.-2_261-3610del
ENST00000445503.5:c.-2_261-3610del
ENST00000456246.1:c.-2_260+3824del
ENST00000540021.5:c.-2_237+3847del
ENST00000606499.1:c.-37-7695_-37-3610del	ENSP00000475605.1:n.-37-7695_-37-3610del
ENST00000614496.4:c.-738_-476-3610del
ENST00000616033.4:c.-2_258-3610del
ENST00000622629.4:c.-3098_-2836-3610del
NM_000179.2:c.-2_261-3610del , LRG_219t1:c.-2_261-3610del
NM_001281492.1:c.-2_237+3847del
NM_001281493.1:c.-738_-476-3610del
XM_011532800.1:c.-38+1_-37-3610del	XP_011531102.1:n.-38+1_-37-3610del
XM_024452819.1:c.-2_261-3610del
XM_024452822.1:c.-738_-476-3610del
NM_000179.3:c.-2_261-3610del
NM_001281492.2:c.-2_237+3847del
NM_001281493.2:c.-738_-476-3610del