Canonical Allele Identifier: CA2610887880

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573855-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573858del , CM000672.2:g.110573858del	GRCh38
NC_000010.10:g.112333616del , CM000672.1:g.112333616del	GRCh37
NC_000010.9:g.112323606del	NCBI36
NG_012217.1:g.11168del , LRG_774:g.11168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+113del
ENST00000687823.1:n.45-1478del
ENST00000689932.1:n.716del
ENST00000691297.1:n.263+113del
ENST00000691527.1:n.220+113del
ENST00000692792.1:n.249+113del
ENST00000361804.5:c.130+113del MANE Select	ENSP00000354720.5:n.130+113del
ENST00000361804.4:c.130+113del	ENSP00000354720.4:n.130+113del
ENST00000462899.1:n.276+113del
NM_005445.3:c.130+113del , LRG_774t1:c.130+113del	NP_005436.1:n.130+113del
NM_005445.4:c.130+113del MANE Select	NP_005436.1:n.130+113del