Canonical Allele Identifier: CA2610884216

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578814-ATAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578816_110578818del , CM000672.2:g.110578816_110578818del	GRCh38
NC_000010.10:g.112338574_112338576del , CM000672.1:g.112338574_112338576del	GRCh37
NC_000010.9:g.112328564_112328566del	NCBI36
NG_012217.1:g.16126_16128del , LRG_774:g.16126_16128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+110_562+112del
ENST00000687823.1:n.343+110_343+112del
ENST00000689932.1:n.2492+110_2492+112del
ENST00000691297.1:n.562+110_562+112del
ENST00000691527.1:n.1232+110_1232+112del
ENST00000692792.1:n.548+110_548+112del
ENST00000361804.5:c.429+110_429+112del MANE Select	ENSP00000354720.5:n.429+110_429+112del
ENST00000361804.4:c.429+110_429+112del	ENSP00000354720.4:n.429+110_429+112del
ENST00000462899.1:n.575+110_575+112del
NM_005445.3:c.429+110_429+112del , LRG_774t1:c.429+110_429+112del	NP_005436.1:n.429+110_429+112del
NM_005445.4:c.429+110_429+112del MANE Select	NP_005436.1:n.429+110_429+112del