Canonical Allele Identifier: CA932519447

Gene: SMC3

Linked Data

• dbSNP Id: rs1861387096
• gnomAD v3: 10-110601514-CAG-C
• gnomAD v4: 10-110601514-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601516_110601517del , CM000672.2:g.110601516_110601517del	GRCh38
NC_000010.10:g.112361274_112361275del , CM000672.1:g.112361274_112361275del	GRCh37
NC_000010.9:g.112351264_112351265del	NCBI36
NG_012217.1:g.38826_38827del , LRG_774:g.38826_38827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4878-121_4878-120del
ENST00000685743.1:n.2232_2233del
ENST00000686057.1:n.996-121_996-120del
ENST00000689321.1:n.1608-121_1608-120del
ENST00000689986.1:n.434-121_434-120del
ENST00000361804.5:c.2645-121_2645-120del MANE Select	ENSP00000354720.5:n.2645-121_2645-120del
ENST00000361804.4:c.2645-121_2645-120del	ENSP00000354720.4:n.2645-121_2645-120del
NM_005445.3:c.2645-121_2645-120del , LRG_774t1:c.2645-121_2645-120del	NP_005436.1:n.2645-121_2645-120del
NM_005445.4:c.2645-121_2645-120del MANE Select	NP_005436.1:n.2645-121_2645-120del