Canonical Allele Identifier: CA2610889302

Gene: SMC3

Linked Data

• ClinVar Variation Id: 2859080
• ClinVar RCV Id: RCV003613494
• gnomAD v4: 10-110589877-CTTTTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589881_110589886del , CM000672.2:g.110589881_110589886del	GRCh38
NC_000010.10:g.112349639_112349644del , CM000672.1:g.112349639_112349644del	GRCh37
NC_000010.9:g.112339629_112339634del	NCBI36
NG_012217.1:g.27191_27196del , LRG_774:g.27191_27196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1310-11_1310-6del
ENST00000684988.1:n.2055-11_2055-6del
ENST00000687823.1:n.1324-11_1324-6del
ENST00000689932.1:n.3473-11_3473-6del
ENST00000691297.1:n.1543-11_1543-6del
ENST00000691527.1:n.2213-11_2213-6del
ENST00000692792.1:n.1529-11_1529-6del
ENST00000361804.5:c.1410-11_1410-6del MANE Select	ENSP00000354720.5:n.1410-11_1410-6del
ENST00000361804.4:c.1410-11_1410-6del	ENSP00000354720.4:n.1410-11_1410-6del
NM_005445.3:c.1410-11_1410-6del , LRG_774t1:c.1410-11_1410-6del	NP_005436.1:n.1410-11_1410-6del
NM_005445.4:c.1410-11_1410-6del MANE Select	NP_005436.1:n.1410-11_1410-6del