Canonical Allele Identifier: CA2532723473

Gene: SMC3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582052_110582063del , CM000672.2:g.110582052_110582063del	GRCh38
NC_000010.10:g.112341810_112341821del , CM000672.1:g.112341810_112341821del	GRCh37
NC_000010.9:g.112331800_112331811del	NCBI36
NG_012217.1:g.19362_19373del , LRG_774:g.19362_19373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.810_821del
ENST00000687823.1:n.591_602del
ENST00000689932.1:n.2740_2751del
ENST00000691297.1:n.810_821del
ENST00000691527.1:n.1480_1491del
ENST00000692792.1:n.796_807del
ENST00000361804.5:c.677_688del MANE Select	ENSP00000354720.5:p.Thr226_Gln230delinsLys
ENST00000361804.4:c.677_688del	ENSP00000354720.4:p.Thr226_Gln230delinsLys
NM_005445.3:c.677_688del , LRG_774t1:c.677_688del	NP_005436.1:p.Thr226_Gln230delinsLys
NM_005445.4:c.677_688del MANE Select	NP_005436.1:p.Thr226_Gln230delinsLys