Canonical Allele Identifier: CA915943789

Gene: MSH6

Linked Data

• ClinVar Variation Id: 657633
• ClinVar RCV Id: RCV000814280

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783372_47785371del , CM000664.2:g.47783372_47785371del	GRCh38
NC_000002.11:g.48010511_48012510del , CM000664.1:g.48010511_48012510del	GRCh37
NC_000002.10:g.47864015_47866014del	NCBI36
NG_007111.1:g.5226_7225del , LRG_219:g.5226_7225del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.139_260+1878del
ENST00000699999.1:n.223_344+1878del
ENST00000700000.1:c.139_260+1878del
ENST00000700001.1:n.211_332+1878del
ENST00000700002.1:c.139_260+1878del
ENST00000700003.1:c.139_260+1878del
ENST00000234420.11:c.139_260+1878del
ENST00000540021.6:c.139_237+1901del
ENST00000652107.1:c.-37-7555_-37-5556del	ENSP00000498629.1:n.-37-7555_-37-5556del
ENST00000673637.1:c.-38+141_-38+2140del	ENSP00000501310.1:n.-38+141_-38+2140del
ENST00000673922.1:n.228_349+1878del
ENST00000234420.9:c.139_260+1878del
ENST00000445503.5:c.139_260+1878del
ENST00000456246.1:c.139_260+1878del
ENST00000540021.5:c.139_237+1901del
ENST00000606499.1:c.-37-7555_-37-5556del	ENSP00000475605.1:n.-37-7555_-37-5556del
ENST00000614496.4:c.-598_-477+1878del
ENST00000616033.4:c.137_257+1878del
ENST00000622629.4:c.-2958_-2837+1878del
NM_000179.2:c.139_260+1878del , LRG_219t1:c.139_260+1878del
NM_001281492.1:c.139_237+1901del
NM_001281493.1:c.-598_-477+1878del
XM_011532800.1:c.-38+141_-38+2140del	XP_011531102.1:n.-38+141_-38+2140del
XM_024452819.1:c.139_260+1878del
XM_024452822.1:c.-598_-477+1878del
NM_000179.3:c.139_260+1878del
NM_001281492.2:c.139_237+1901del
NM_001281493.2:c.-598_-477+1878del