Canonical Allele Identifier: CA278856
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4631
ClinVar RCV Id: RCV000004894
dbSNP Id: rs863223279
MyVariant Identifiers: chr10:g.112349704_112349706del (hg19) chr10:g.110589946_110589948del (hg38)
PubMed: PMID:17273969 PMID:18996922 PMID:25655089
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110589946_110589948del , CM000672.2:g.110589946_110589948del GRCh38
NC_000010.10:g.112349704_112349706del , CM000672.1:g.112349704_112349706del GRCh37
NC_000010.9:g.112339694_112339696del NCBI36
NG_012217.1:g.27256_27258del , LRG_774:g.27256_27258del

Transcript Alleles

HGVS Amino-acid change
ENST00000684797.1:n.1364_1366del
ENST00000684988.1:n.2109_2111del
ENST00000687823.1:n.1378_1380del
ENST00000689932.1:n.3527_3529del
ENST00000691297.1:n.1597_1599del
ENST00000691527.1:n.2267_2269del
ENST00000692792.1:n.1583_1585del
ENST00000361804.5:c.1464_1466del MANE Select ENSP00000354720.5:p.Glu488del
ENST00000361804.4:c.1464_1466del ENSP00000354720.4:p.Glu488del
NM_005445.3:c.1464_1466del , LRG_774t1:c.1464_1466del NP_005436.1:p.Glu488del
NM_005445.4:c.1464_1466del MANE Select NP_005436.1:p.Glu488del
Search 100 bp 5'
Search 100 bp 3'