Canonical Allele Identifier: CA2580611827
Gene: SMC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110577449_110577543del , CM000672.2:g.110577449_110577543del GRCh38
NC_000010.10:g.112337207_112337301del , CM000672.1:g.112337207_112337301del GRCh37
NC_000010.9:g.112327197_112327291del NCBI36
NG_012217.1:g.14759_14853del , LRG_774:g.14759_14853del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.360_403+51del
ENST00000687823.1:n.141_184+51del
ENST00000689932.1:n.2290_2333+51del
ENST00000691297.1:n.360_403+51del
ENST00000691527.1:n.317_360+51del
ENST00000692792.1:n.346_389+51del
ENST00000361804.5:c.227_270+51del
ENST00000361804.4:c.227_270+51del
ENST00000462899.1:n.373_416+51del
NM_005445.3:c.227_270+51del , LRG_774t1:c.227_270+51del
NM_005445.4:c.227_270+51del