Canonical Allele Identifier: CA653851195
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573657_110573662del , CM000672.2:g.110573657_110573662del GRCh38
NC_000010.10:g.112333415_112333420del , CM000672.1:g.112333415_112333420del GRCh37
NC_000010.9:g.112323405_112323410del NCBI36
NG_012217.1:g.10967_10972del , LRG_774:g.10967_10972del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.225-50_225-45del
ENST00000687823.1:n.45-1679_45-1674del
ENST00000689932.1:n.515_520del
ENST00000691297.1:n.225-50_225-45del
ENST00000691527.1:n.182-50_182-45del
ENST00000692792.1:n.211-50_211-45del
ENST00000361804.5:c.92-50_92-45del MANE Select ENSP00000354720.5:n.92-50_92-45del
ENST00000361804.4:c.92-50_92-45del ENSP00000354720.4:n.92-50_92-45del
ENST00000462899.1:n.238-50_238-45del
NM_005445.3:c.92-50_92-45del , LRG_774t1:c.92-50_92-45del NP_005436.1:n.92-50_92-45del
NM_005445.4:c.92-50_92-45del MANE Select NP_005436.1:n.92-50_92-45del