Canonical Allele Identifier: CA2610887693

Gene: SMC3

Linked Data

• gnomAD v4: 10-110601529-ACAAAACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601530_110601536del , CM000672.2:g.110601530_110601536del	GRCh38
NC_000010.10:g.112361288_112361294del , CM000672.1:g.112361288_112361294del	GRCh37
NC_000010.9:g.112351278_112351284del	NCBI36
NG_012217.1:g.38840_38846del , LRG_774:g.38840_38846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4878-107_4878-101del
ENST00000685743.1:n.2246_2252del
ENST00000686057.1:n.996-107_996-101del
ENST00000689321.1:n.1608-107_1608-101del
ENST00000689986.1:n.434-107_434-101del
ENST00000361804.5:c.2645-107_2645-101del MANE Select	ENSP00000354720.5:n.2645-107_2645-101del
ENST00000361804.4:c.2645-107_2645-101del	ENSP00000354720.4:n.2645-107_2645-101del
NM_005445.3:c.2645-107_2645-101del , LRG_774t1:c.2645-107_2645-101del	NP_005436.1:n.2645-107_2645-101del
NM_005445.4:c.2645-107_2645-101del MANE Select	NP_005436.1:n.2645-107_2645-101del