Canonical Allele Identifier: CA5688267
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2882407
ClinVar RCV Id: RCV003611306
dbSNP Id: rs746069363
ExAC: 10:112361381 TC / T
gnomAD v2: 10-112361381-TC-T
gnomAD v4: 10-110601623-TC-T
MyVariant Identifiers: chr10:g.112361383del (hg19) chr10:g.112361382del (hg19) chr10:g.110601624del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601629del , CM000672.2:g.110601629del GRCh38
NC_000010.10:g.112361387del , CM000672.1:g.112361387del GRCh37
NC_000010.9:g.112351377del NCBI36
NG_012217.1:g.38939del , LRG_774:g.38939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.4878-8del
ENST00000685743.1:n.2345del
ENST00000686057.1:n.996-8del
ENST00000689321.1:n.1608-8del
ENST00000689986.1:n.434-8del
ENST00000361804.5:c.2645-8del MANE Select ENSP00000354720.5:n.2645-8del
ENST00000361804.4:c.2645-8del ENSP00000354720.4:n.2645-8del
NM_005445.3:c.2645-8del , LRG_774t1:c.2645-8del NP_005436.1:n.2645-8del
NM_005445.4:c.2645-8del MANE Select NP_005436.1:n.2645-8del
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