Canonical Allele Identifier: CA658823250

Gene: MSH6

Linked Data

• ClinVar Variation Id: 548921
• ClinVar RCV Id: RCV002397345
• dbSNP Id: rs1553408197
• gnomAD v4: 2-47783332-TGCC-T
• MyVariant Identifiers: chr2:g.48010477_48010479del (hg19) ; chr2:g.47783338_47783340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783338_47783340del , CM000664.2:g.47783338_47783340del	GRCh38
NC_000002.11:g.48010477_48010479del , CM000664.1:g.48010477_48010479del	GRCh37
NC_000002.10:g.47863981_47863983del	NCBI36
NG_007111.1:g.5192_5194del , LRG_219:g.5192_5194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.105_107del	ENSP00000514752.2:p.Ala36del
ENST00000699999.1:n.189_191del
ENST00000700000.1:c.105_107del	ENSP00000514749.1:p.Ala36del
ENST00000700001.1:n.177_179del
ENST00000700002.1:c.105_107del	ENSP00000514750.1:p.Ala36del
ENST00000700003.1:c.105_107del	ENSP00000514751.1:p.Ala36del
ENST00000234420.11:c.105_107del MANE Select	ENSP00000234420.5:p.Ala36del
ENST00000540021.6:c.105_107del	ENSP00000446475.1:p.Ala36del
ENST00000652107.1:c.-37-7589_-37-7587del	ENSP00000498629.1:n.-37-7589_-37-7587del
ENST00000673637.1:c.-38+107_-38+109del	ENSP00000501310.1:n.-38+107_-38+109del
ENST00000673922.1:n.194_196del
ENST00000234420.9:c.105_107del	ENSP00000234420.4:p.Ala36del
ENST00000445503.5:c.105_107del	ENSP00000405294.1:p.Ala36del
ENST00000456246.1:c.105_107del	ENSP00000410570.1:p.Ala36del
ENST00000493177.1:n.169_171del
ENST00000540021.5:c.105_107del	ENSP00000446475.1:p.Ala36del
ENST00000606499.1:c.-37-7589_-37-7587del	ENSP00000475605.1:n.-37-7589_-37-7587del
ENST00000614496.4:c.-632_-630del	ENSP00000477844.1:n.-632_-630del
ENST00000616033.4:c.103_105del
ENST00000622629.4:c.-2992_-2990del	ENSP00000482078.1:n.-2992_-2990del
NM_000179.2:c.105_107del , LRG_219t1:c.105_107del	NP_000170.1:p.Ala36del
NM_001281492.1:c.105_107del	NP_001268421.1:p.Ala36del
NM_001281493.1:c.-632_-630del	NP_001268422.1:n.-632_-630del
XM_011532800.1:c.-38+107_-38+109del	XP_011531102.1:n.-38+107_-38+109del
XM_024452819.1:c.105_107del	XP_024308587.1:p.Ala36del
XM_024452822.1:c.-632_-630del	XP_024308590.1:n.-632_-630del
NM_000179.3:c.105_107del MANE Select	NP_000170.1:p.Ala36del
NM_001281492.2:c.105_107del	NP_001268421.1:p.Ala36del
NM_001281493.2:c.-632_-630del	NP_001268422.1:n.-632_-630del