Canonical Allele Identifier: CA2610887857

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573827-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573829del , CM000672.2:g.110573829del	GRCh38
NC_000010.10:g.112333587del , CM000672.1:g.112333587del	GRCh37
NC_000010.9:g.112323577del	NCBI36
NG_012217.1:g.11139del , LRG_774:g.11139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+84del
ENST00000687823.1:n.45-1507del
ENST00000689932.1:n.687del
ENST00000691297.1:n.263+84del
ENST00000691527.1:n.220+84del
ENST00000692792.1:n.249+84del
ENST00000361804.5:c.130+84del MANE Select	ENSP00000354720.5:n.130+84del
ENST00000361804.4:c.130+84del	ENSP00000354720.4:n.130+84del
ENST00000462899.1:n.276+84del
NM_005445.3:c.130+84del , LRG_774t1:c.130+84del	NP_005436.1:n.130+84del
NM_005445.4:c.130+84del MANE Select	NP_005436.1:n.130+84del