Canonical Allele Identifier: CA658683195

Gene: MSH6

Linked Data

• ClinVar Variation Id: 489969
• ClinVar RCV Id: RCV000580316
• dbSNP Id: rs1553408302
• MyVariant Identifiers: chr2:g.48010542_48010556del (hg19) ; chr2:g.47783403_47783417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783403_47783417del , CM000664.2:g.47783403_47783417del	GRCh38
NC_000002.11:g.48010542_48010556del , CM000664.1:g.48010542_48010556del	GRCh37
NC_000002.10:g.47864046_47864060del	NCBI36
NG_007111.1:g.5257_5271del , LRG_219:g.5257_5271del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.170_184del	ENSP00000514752.2:p.Pro57_Ala61del
ENST00000699999.1:n.254_268del
ENST00000700000.1:c.170_184del	ENSP00000514749.1:p.Pro57_Ala61del
ENST00000700001.1:n.242_256del
ENST00000700002.1:c.170_184del	ENSP00000514750.1:p.Pro57_Ala61del
ENST00000700003.1:c.170_184del	ENSP00000514751.1:p.Pro57_Ala61del
ENST00000234420.11:c.170_184del MANE Select	ENSP00000234420.5:p.Pro57_Ala61del
ENST00000540021.6:c.170_184del	ENSP00000446475.1:p.Pro57_Ala61del
ENST00000652107.1:c.-37-7524_-37-7510del	ENSP00000498629.1:n.-37-7524_-37-7510del
ENST00000673637.1:c.-38+172_-38+186del	ENSP00000501310.1:n.-38+172_-38+186del
ENST00000673922.1:n.259_273del
ENST00000234420.9:c.170_184del	ENSP00000234420.4:p.Pro57_Ala61del
ENST00000445503.5:c.170_184del	ENSP00000405294.1:p.Pro57_Ala61del
ENST00000456246.1:c.170_184del	ENSP00000410570.1:p.Pro57_Ala61del
ENST00000493177.1:n.234_248del
ENST00000540021.5:c.170_184del	ENSP00000446475.1:p.Pro57_Ala61del
ENST00000606499.1:c.-37-7524_-37-7510del	ENSP00000475605.1:n.-37-7524_-37-7510del
ENST00000614496.4:c.-567_-553del	ENSP00000477844.1:n.-567_-553del
ENST00000616033.4:c.168_181del
ENST00000622629.4:c.-2927_-2913del	ENSP00000482078.1:n.-2927_-2913del
NM_000179.2:c.170_184del , LRG_219t1:c.170_184del	NP_000170.1:p.Pro57_Ala61del
NM_001281492.1:c.170_184del	NP_001268421.1:p.Pro57_Ala61del
NM_001281493.1:c.-567_-553del	NP_001268422.1:n.-567_-553del
XM_011532800.1:c.-38+172_-38+186del	XP_011531102.1:n.-38+172_-38+186del
XM_024452819.1:c.170_184del	XP_024308587.1:p.Pro57_Ala61del
XM_024452822.1:c.-567_-553del	XP_024308590.1:n.-567_-553del
NM_000179.3:c.170_184del MANE Select	NP_000170.1:p.Pro57_Ala61del
NM_001281492.2:c.170_184del	NP_001268421.1:p.Pro57_Ala61del
NM_001281493.2:c.-567_-553del	NP_001268422.1:n.-567_-553del