Canonical Allele Identifier: CA119871

Gene: MSH3

Linked Data

• ClinVar Variation Id: 8738
• ClinVar RCV Id: RCV003944809
• dbSNP Id: rs587776701
• ExAC: 5:79970914 CA / C
• gnomAD v2: 5-79970914-CA-C
• gnomAD v3: 5-80675095-CA-C
• gnomAD v4: 5-80675095-CA-C
• COSMIC: COSM1438888 ; COSM1642798
• MyVariant Identifiers: chr5:g.79970922del (hg19) ; chr5:g.79970915del (hg19) ; chr5:g.80675103del (hg38) ; chr5:g.80675096del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80675103del , CM000667.2:g.80675103del	GRCh38
NC_000005.9:g.79970922del , CM000667.1:g.79970922del	GRCh37
NC_000005.8:g.80006678del	NCBI36
NG_016607.1:g.25629del
NG_016607.2:g.25629del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265081.7:c.1148del MANE Select	ENSP00000265081.6:p.Lys383ArgfsTer?
ENST00000658259.1:c.980del	ENSP00000499617.1:p.Lys327ArgfsTer?
ENST00000667069.1:c.1148del	ENSP00000499502.1:p.Lys383ArgfsTer?
ENST00000670357.1:c.1148del	ENSP00000499791.1:p.Lys383ArgfsTer?
ENST00000265081.6:c.1148del	ENSP00000265081.6:p.Lys383ArgfsTer?
NM_002439.4:c.1148del	NP_002430.3:p.Lys383ArgfsTer?
NM_002439.5:c.1148del MANE Select	NP_002430.3:p.Lys383ArgfsTer?