Canonical Allele Identifier: CA2527574588
Gene: SMC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601909_110601911del , CM000672.2:g.110601909_110601911del GRCh38
NC_000010.10:g.112361667_112361669del , CM000672.1:g.112361667_112361669del GRCh37
NC_000010.9:g.112351657_112351659del NCBI36
NG_012217.1:g.39219_39221del , LRG_774:g.39219_39221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5125+25_5125+27del
ENST00000685743.1:n.2600+25_2600+27del
ENST00000686057.1:n.1243+25_1243+27del
ENST00000689321.1:n.1855+25_1855+27del
ENST00000689986.1:n.681+25_681+27del
ENST00000361804.5:c.2892+25_2892+27del MANE Select ENSP00000354720.5:n.2892+25_2892+27del
ENST00000361804.4:c.2892+25_2892+27del ENSP00000354720.4:n.2892+25_2892+27del
NM_005445.3:c.2892+25_2892+27del , LRG_774t1:c.2892+25_2892+27del NP_005436.1:n.2892+25_2892+27del
NM_005445.4:c.2892+25_2892+27del MANE Select NP_005436.1:n.2892+25_2892+27del