Canonical Allele Identifier: CA2610884181

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578795-AGCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578796_110578799del , CM000672.2:g.110578796_110578799del	GRCh38
NC_000010.10:g.112338554_112338557del , CM000672.1:g.112338554_112338557del	GRCh37
NC_000010.9:g.112328544_112328547del	NCBI36
NG_012217.1:g.16106_16109del , LRG_774:g.16106_16109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+90_562+93del
ENST00000687823.1:n.343+90_343+93del
ENST00000689932.1:n.2492+90_2492+93del
ENST00000691297.1:n.562+90_562+93del
ENST00000691527.1:n.1232+90_1232+93del
ENST00000692792.1:n.548+90_548+93del
ENST00000361804.5:c.429+90_429+93del MANE Select	ENSP00000354720.5:n.429+90_429+93del
ENST00000361804.4:c.429+90_429+93del	ENSP00000354720.4:n.429+90_429+93del
ENST00000462899.1:n.575+90_575+93del
NM_005445.3:c.429+90_429+93del , LRG_774t1:c.429+90_429+93del	NP_005436.1:n.429+90_429+93del
NM_005445.4:c.429+90_429+93del MANE Select	NP_005436.1:n.429+90_429+93del