Canonical Allele Identifier: CA2610887799

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573756-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573761del , CM000672.2:g.110573761del	GRCh38
NC_000010.10:g.112333519del , CM000672.1:g.112333519del	GRCh37
NC_000010.9:g.112323509del	NCBI36
NG_012217.1:g.11071del , LRG_774:g.11071del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.263+16del
ENST00000687823.1:n.45-1575del
ENST00000689932.1:n.619del
ENST00000691297.1:n.263+16del
ENST00000691527.1:n.220+16del
ENST00000692792.1:n.249+16del
ENST00000361804.5:c.130+16del MANE Select	ENSP00000354720.5:n.130+16del
ENST00000361804.4:c.130+16del	ENSP00000354720.4:n.130+16del
ENST00000462899.1:n.276+16del
NM_005445.3:c.130+16del , LRG_774t1:c.130+16del	NP_005436.1:n.130+16del
NM_005445.4:c.130+16del MANE Select	NP_005436.1:n.130+16del