Canonical Allele Identifier: CA658822530

Gene: SMC3

Linked Data

• ClinVar Variation Id: 523214
• ClinVar RCV Id: RCV000680264
• dbSNP Id: rs1564792181
• MyVariant Identifiers: chr10:g.112349693_112349695del (hg19) ; chr10:g.110589935_110589937del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589935_110589937del , CM000672.2:g.110589935_110589937del	GRCh38
NC_000010.10:g.112349693_112349695del , CM000672.1:g.112349693_112349695del	GRCh37
NC_000010.9:g.112339683_112339685del	NCBI36
NG_012217.1:g.27245_27247del , LRG_774:g.27245_27247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1353_1355del
ENST00000684988.1:n.2098_2100del
ENST00000687823.1:n.1367_1369del
ENST00000689932.1:n.3516_3518del
ENST00000691297.1:n.1586_1588del
ENST00000691527.1:n.2256_2258del
ENST00000692792.1:n.1572_1574del
ENST00000361804.5:c.1453_1455del MANE Select	ENSP00000354720.5:p.Ala485del
ENST00000361804.4:c.1453_1455del	ENSP00000354720.4:p.Ala485del
NM_005445.3:c.1453_1455del , LRG_774t1:c.1453_1455del	NP_005436.1:p.Ala485del
NM_005445.4:c.1453_1455del MANE Select	NP_005436.1:p.Ala485del