Canonical Allele Identifier: CA3003717733
Community Standard Title: NM_005445.4(SMC3):c.2893-4_2893-3insGTATCATGAT
Gene: SMC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601962_110601963insGTATCATGAT , CM000672.2:g.110601962_110601963insGTATCATGAT GRCh38
NC_000010.10:g.112361720_112361721insGTATCATGAT , CM000672.1:g.112361720_112361721insGTATCATGAT GRCh37
NC_000010.9:g.112351710_112351711insGTATCATGAT NCBI36
NG_012217.1:g.39272_39273insGTATCATGAT , LRG_774:g.39272_39273insGTATCATGAT

Transcript Alleles

HGVS Amino-acid Change
NM_005445.4:c.2893-4_2893-3insGTATCATGAT MANE Select NP_005436.1:n.2893-4_2893-3insGTATCATGAT
ENST00000361804.5:c.2893-4_2893-3insGTATCATGAT MANE Select ENSP00000354720.5:n.2893-4_2893-3insGTATCATGAT
NM_005445.3:c.2893-4_2893-3insGTATCATGAT , LRG_774t1:c.2893-4_2893-3insGTATCATGAT NP_005436.1:n.2893-4_2893-3insGTATCATGAT
ENST00000361804.4:c.2893-4_2893-3insGTATCATGAT ENSP00000354720.4:n.2893-4_2893-3insGTATCATGAT
ENST00000684988.1:n.5126-4_5126-3insGTATCATGAT
ENST00000685743.1:n.2601-4_2601-3insGTATCATGAT
ENST00000686057.1:n.1244-4_1244-3insGTATCATGAT
ENST00000689321.1:n.1856-4_1856-3insGTATCATGAT
ENST00000689986.1:n.682-4_682-3insGTATCATGAT