Canonical Allele Identifier: CA2534183038
Gene: SMC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573531_110573535del , CM000672.2:g.110573531_110573535del GRCh38
NC_000010.10:g.112333289_112333293del , CM000672.1:g.112333289_112333293del GRCh37
NC_000010.9:g.112323279_112323283del NCBI36
NG_012217.1:g.10841_10845del , LRG_774:g.10841_10845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.225-176_225-172del
ENST00000687823.1:n.45-1805_45-1801del
ENST00000689932.1:n.389_393del
ENST00000691297.1:n.225-176_225-172del
ENST00000691527.1:n.182-176_182-172del
ENST00000692792.1:n.211-176_211-172del
ENST00000361804.5:c.92-176_92-172del MANE Select ENSP00000354720.5:n.92-176_92-172del
ENST00000361804.4:c.92-176_92-172del ENSP00000354720.4:n.92-176_92-172del
ENST00000462899.1:n.238-176_238-172del
NM_005445.3:c.92-176_92-172del , LRG_774t1:c.92-176_92-172del NP_005436.1:n.92-176_92-172del
NM_005445.4:c.92-176_92-172del MANE Select NP_005436.1:n.92-176_92-172del