Canonical Allele Identifier: CA2843632731

Gene: SMC3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601670dup , CM000672.2:g.110601670dup	GRCh38
NC_000010.10:g.112361428dup , CM000672.1:g.112361428dup	GRCh37
NC_000010.9:g.112351418dup	NCBI36
NG_012217.1:g.38980dup , LRG_774:g.38980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4911dup
ENST00000685743.1:n.2386dup
ENST00000686057.1:n.1029dup
ENST00000689321.1:n.1641dup
ENST00000689986.1:n.467dup
ENST00000361804.5:c.2678dup MANE Select	ENSP00000354720.5:p.Ile894AsnfsTer2
ENST00000361804.4:c.2678dup	ENSP00000354720.4:p.Ile894AsnfsTer2
NM_005445.3:c.2678dup , LRG_774t1:c.2678dup	NP_005436.1:p.Ile894AsnfsTer2
NM_005445.4:c.2678dup MANE Select	NP_005436.1:p.Ile894AsnfsTer2