Canonical Allele Identifier: CA2548325508
Gene: SMC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110581872del , CM000672.2:g.110581872del GRCh38
NC_000010.10:g.112341630del , CM000672.1:g.112341630del GRCh37
NC_000010.9:g.112331620del NCBI36
NG_012217.1:g.19182del , LRG_774:g.19182del

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.681-51del
ENST00000687823.1:n.462-51del
ENST00000689932.1:n.2611-51del
ENST00000691297.1:n.681-51del
ENST00000691527.1:n.1351-51del
ENST00000692792.1:n.667-51del
ENST00000361804.5:c.548-51del MANE Select ENSP00000354720.5:n.548-51del
ENST00000361804.4:c.548-51del ENSP00000354720.4:n.548-51del
ENST00000462899.1:n.694-51del
NM_005445.3:c.548-51del , LRG_774t1:c.548-51del NP_005436.1:n.548-51del
NM_005445.4:c.548-51del MANE Select NP_005436.1:n.548-51del