Canonical Allele Identifier: CA2610884171

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578791-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578793del , CM000672.2:g.110578793del	GRCh38
NC_000010.10:g.112338551del , CM000672.1:g.112338551del	GRCh37
NC_000010.9:g.112328541del	NCBI36
NG_012217.1:g.16103del , LRG_774:g.16103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+87del
ENST00000687823.1:n.343+87del
ENST00000689932.1:n.2492+87del
ENST00000691297.1:n.562+87del
ENST00000691527.1:n.1232+87del
ENST00000692792.1:n.548+87del
ENST00000361804.5:c.429+87del MANE Select	ENSP00000354720.5:n.429+87del
ENST00000361804.4:c.429+87del	ENSP00000354720.4:n.429+87del
ENST00000462899.1:n.575+87del
NM_005445.3:c.429+87del , LRG_774t1:c.429+87del	NP_005436.1:n.429+87del
NM_005445.4:c.429+87del MANE Select	NP_005436.1:n.429+87del