Canonical Allele Identifier: CA16621610

Gene: SMC3

Linked Data

• ClinVar Variation Id: 424964
• ClinVar RCV Id: RCV000488068
• dbSNP Id: rs1064797151
• MyVariant Identifiers: chr10:g.112338418_112338426del (hg19) ; chr10:g.110578660_110578668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578662_110578670del , CM000672.2:g.110578662_110578670del	GRCh38
NC_000010.10:g.112338420_112338428del , CM000672.1:g.112338420_112338428del	GRCh37
NC_000010.9:g.112328410_112328418del	NCBI36
NG_012217.1:g.15972_15980del , LRG_774:g.15972_15980del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.518_526del
ENST00000687823.1:n.299_307del
ENST00000689932.1:n.2448_2456del
ENST00000691297.1:n.518_526del
ENST00000691527.1:n.1188_1196del
ENST00000692792.1:n.504_512del
ENST00000361804.5:c.385_393del MANE Select	ENSP00000354720.5:p.Gly129_Ser131del
ENST00000361804.4:c.385_393del	ENSP00000354720.4:p.Gly129_Ser131del
ENST00000462899.1:n.531_539del
NM_005445.3:c.385_393del , LRG_774t1:c.385_393del	NP_005436.1:p.Gly129_Ser131del
NM_005445.4:c.385_393del MANE Select	NP_005436.1:p.Gly129_Ser131del