Canonical Allele Identifier: CA2497305424

Gene: SMC3

Linked Data

• dbSNP Id: rs1860992328
• gnomAD v4: 10-110578788-GTGGTTAAGCTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578789_110578800del , CM000672.2:g.110578789_110578800del	GRCh38
NC_000010.10:g.112338547_112338558del , CM000672.1:g.112338547_112338558del	GRCh37
NC_000010.9:g.112328537_112328548del	NCBI36
NG_012217.1:g.16099_16110del , LRG_774:g.16099_16110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+83_562+94del
ENST00000687823.1:n.343+83_343+94del
ENST00000689932.1:n.2492+83_2492+94del
ENST00000691297.1:n.562+83_562+94del
ENST00000691527.1:n.1232+83_1232+94del
ENST00000692792.1:n.548+83_548+94del
ENST00000361804.5:c.429+83_429+94del MANE Select	ENSP00000354720.5:n.429+83_429+94del
ENST00000361804.4:c.429+83_429+94del	ENSP00000354720.4:n.429+83_429+94del
ENST00000462899.1:n.575+83_575+94del
NM_005445.3:c.429+83_429+94del , LRG_774t1:c.429+83_429+94del	NP_005436.1:n.429+83_429+94del
NM_005445.4:c.429+83_429+94del MANE Select	NP_005436.1:n.429+83_429+94del