Canonical Allele Identifier: CA2574670574

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573707-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573710del , CM000672.2:g.110573710del	GRCh38
NC_000010.10:g.112333468del , CM000672.1:g.112333468del	GRCh37
NC_000010.9:g.112323458del	NCBI36
NG_012217.1:g.11020del , LRG_774:g.11020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.228del
ENST00000687823.1:n.45-1626del
ENST00000689932.1:n.568del
ENST00000691297.1:n.228del
ENST00000691527.1:n.185del
ENST00000692792.1:n.214del
ENST00000361804.5:c.95del MANE Select	ENSP00000354720.5:p.Gly32AlafsTer?
ENST00000361804.4:c.95del	ENSP00000354720.4:p.Gly32AlafsTer?
ENST00000462899.1:n.241del
NM_005445.3:c.95del , LRG_774t1:c.95del	NP_005436.1:p.Gly32AlafsTer?
NM_005445.4:c.95del MANE Select	NP_005436.1:p.Gly32AlafsTer?