Canonical Allele Identifier: CA2542271089
Community Standard Title: NM_005445.4(SMC3):c.2893-15_2893-13del
Gene: SMC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601951_110601953del , CM000672.2:g.110601951_110601953del GRCh38
NC_000010.10:g.112361709_112361711del , CM000672.1:g.112361709_112361711del GRCh37
NC_000010.9:g.112351699_112351701del NCBI36
NG_012217.1:g.39261_39263del , LRG_774:g.39261_39263del

Transcript Alleles

HGVS Amino-acid Change
NM_005445.4:c.2893-15_2893-13del MANE Select NP_005436.1:n.2893-15_2893-13del
ENST00000361804.5:c.2893-15_2893-13del MANE Select ENSP00000354720.5:n.2893-15_2893-13del
NM_005445.3:c.2893-15_2893-13del , LRG_774t1:c.2893-15_2893-13del NP_005436.1:n.2893-15_2893-13del
ENST00000361804.4:c.2893-15_2893-13del ENSP00000354720.4:n.2893-15_2893-13del
ENST00000684988.1:n.5126-15_5126-13del
ENST00000685743.1:n.2601-15_2601-13del
ENST00000686057.1:n.1244-15_1244-13del
ENST00000689321.1:n.1856-15_1856-13del
ENST00000689986.1:n.682-15_682-13del