Canonical Allele Identifier: CA2610887812
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573771del , CM000672.2:g.110573771del GRCh38
NC_000010.10:g.112333529del , CM000672.1:g.112333529del GRCh37
NC_000010.9:g.112323519del NCBI36
NG_012217.1:g.11081del , LRG_774:g.11081del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.263+26del
ENST00000687823.1:n.45-1565del
ENST00000689932.1:n.629del
ENST00000691297.1:n.263+26del
ENST00000691527.1:n.220+26del
ENST00000692792.1:n.249+26del
ENST00000361804.5:c.130+26del MANE Select ENSP00000354720.5:n.130+26del
ENST00000361804.4:c.130+26del ENSP00000354720.4:n.130+26del
ENST00000462899.1:n.276+26del
NM_005445.3:c.130+26del , LRG_774t1:c.130+26del NP_005436.1:n.130+26del
NM_005445.4:c.130+26del MANE Select NP_005436.1:n.130+26del