Canonical Allele Identifier: CA645568365
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573730del , CM000672.2:g.110573730del GRCh38
NC_000010.10:g.112333488del , CM000672.1:g.112333488del GRCh37
NC_000010.9:g.112323478del NCBI36
NG_012217.1:g.11040del , LRG_774:g.11040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.248del
ENST00000687823.1:n.45-1606del
ENST00000689932.1:n.588del
ENST00000691297.1:n.248del
ENST00000691527.1:n.205del
ENST00000692792.1:n.234del
ENST00000361804.5:c.115del MANE Select ENSP00000354720.5:p.Ser39ValfsTer?
ENST00000361804.4:c.115del ENSP00000354720.4:p.Ser39ValfsTer?
ENST00000462899.1:n.261del
NM_005445.3:c.115del , LRG_774t1:c.115del NP_005436.1:p.Ser39ValfsTer?
NM_005445.4:c.115del MANE Select NP_005436.1:p.Ser39ValfsTer?