Canonical Allele Identifier: CA5687666

Gene: SMC3

Linked Data

• ClinVar Variation Id: 2851444
• ClinVar RCV Id: RCV003613350
• dbSNP Id: rs756099489
• ExAC: 10:112337259 CT / C
• gnomAD v2: 10-112337259-CT-C
• gnomAD v3: 10-110577501-CT-C
• gnomAD v4: 10-110577501-CT-C
• COSMIC: COSM5359803
• MyVariant Identifiers: chr10:g.112337261del (hg19) ; chr10:g.112337260del (hg19) ; chr10:g.112337268_112337276delinsAAAGTAAT (hg19) ; chr10:g.110577502del (hg38) ; chr10:g.110577510_110577518delinsAAAGTAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577510del , CM000672.2:g.110577510del	GRCh38
NC_000010.10:g.112337268del , CM000672.1:g.112337268del	GRCh37
NC_000010.9:g.112327258del	NCBI36
NG_012217.1:g.14820del , LRG_774:g.14820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.403+18del
ENST00000687823.1:n.184+18del
ENST00000689932.1:n.2333+18del
ENST00000691297.1:n.403+18del
ENST00000691527.1:n.360+18del
ENST00000692792.1:n.389+18del
ENST00000361804.5:c.270+18del MANE Select	ENSP00000354720.5:n.270+18del
ENST00000361804.4:c.270+18del	ENSP00000354720.4:n.270+18del
ENST00000462899.1:n.416+18del
NM_005445.3:c.270+18del , LRG_774t1:c.270+18del	NP_005436.1:n.270+18del
NM_005445.4:c.270+18del MANE Select	NP_005436.1:n.270+18del