Canonical Allele Identifier: CA5687960

Gene: SMC3

Linked Data

• ClinVar Variation Id: 259766
• ClinVar RCV Id: RCV000254506
• dbSNP Id: rs147070453
• ExAC: 10:112349614 TTTAAAA / T
• gnomAD v2: 10-112349614-TTTAAAA-T
• gnomAD v3: 10-110589856-TTTAAAA-T
• gnomAD v4: 10-110589856-TTTAAAA-T
• MyVariant Identifiers: chr10:g.112349620_112349625del (hg19) ; chr10:g.112349615_112349620del (hg19) ; chr10:g.110589862_110589867del (hg38) ; chr10:g.110589858_110589863del (hg38) ; chr10:g.110589857_110589862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589862_110589867del , CM000672.2:g.110589862_110589867del	GRCh38
NC_000010.10:g.112349620_112349625del , CM000672.1:g.112349620_112349625del	GRCh37
NC_000010.9:g.112339610_112339615del	NCBI36
NG_012217.1:g.27172_27177del , LRG_774:g.27172_27177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1310-30_1310-25del
ENST00000684988.1:n.2055-30_2055-25del
ENST00000687823.1:n.1324-30_1324-25del
ENST00000689932.1:n.3473-30_3473-25del
ENST00000691297.1:n.1543-30_1543-25del
ENST00000691527.1:n.2213-30_2213-25del
ENST00000692792.1:n.1529-30_1529-25del
ENST00000361804.5:c.1410-30_1410-25del MANE Select	ENSP00000354720.5:n.1410-30_1410-25del
ENST00000361804.4:c.1410-30_1410-25del	ENSP00000354720.4:n.1410-30_1410-25del
NM_005445.3:c.1410-30_1410-25del , LRG_774t1:c.1410-30_1410-25del	NP_005436.1:n.1410-30_1410-25del
NM_005445.4:c.1410-30_1410-25del MANE Select	NP_005436.1:n.1410-30_1410-25del