Canonical Allele Identifier: CA2610887669

Gene: SMC3

Linked Data

• gnomAD v4: 10-110601516-G-GAAAATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601520_110601527dup , CM000672.2:g.110601520_110601527dup	GRCh38
NC_000010.10:g.112361278_112361285dup , CM000672.1:g.112361278_112361285dup	GRCh37
NC_000010.9:g.112351268_112351275dup	NCBI36
NG_012217.1:g.38830_38837dup , LRG_774:g.38830_38837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4878-117_4878-110dup
ENST00000685743.1:n.2236_2243dup
ENST00000686057.1:n.996-117_996-110dup
ENST00000689321.1:n.1608-117_1608-110dup
ENST00000689986.1:n.434-117_434-110dup
ENST00000361804.5:c.2645-117_2645-110dup MANE Select	ENSP00000354720.5:n.2645-117_2645-110dup
ENST00000361804.4:c.2645-117_2645-110dup	ENSP00000354720.4:n.2645-117_2645-110dup
NM_005445.3:c.2645-117_2645-110dup , LRG_774t1:c.2645-117_2645-110dup	NP_005436.1:n.2645-117_2645-110dup
NM_005445.4:c.2645-117_2645-110dup MANE Select	NP_005436.1:n.2645-117_2645-110dup