Canonical Allele Identifier: CA2610882895

Gene: SMC3

Linked Data

• gnomAD v4: 10-110575417-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110575420del , CM000672.2:g.110575420del	GRCh38
NC_000010.10:g.112335178del , CM000672.1:g.112335178del	GRCh37
NC_000010.9:g.112325168del	NCBI36
NG_012217.1:g.12730del , LRG_774:g.12730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.331+17del
ENST00000687823.1:n.112+17del
ENST00000689932.1:n.2261+17del
ENST00000691297.1:n.331+17del
ENST00000691527.1:n.288+17del
ENST00000692792.1:n.317+17del
ENST00000361804.5:c.198+17del MANE Select	ENSP00000354720.5:n.198+17del
ENST00000361804.4:c.198+17del	ENSP00000354720.4:n.198+17del
ENST00000462899.1:n.344+17del
NM_005445.3:c.198+17del , LRG_774t1:c.198+17del	NP_005436.1:n.198+17del
NM_005445.4:c.198+17del MANE Select	NP_005436.1:n.198+17del