Canonical Allele Identifier: CA915947605

Gene: SMC3

Linked Data

• ClinVar Variation Id: 827780
• ClinVar RCV Id: RCV001027668
• dbSNP Id: rs1590571077

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602025_110602027del , CM000672.2:g.110602025_110602027del	GRCh38
NC_000010.10:g.112361783_112361785del , CM000672.1:g.112361783_112361785del	GRCh37
NC_000010.9:g.112351773_112351775del	NCBI36
NG_012217.1:g.39335_39337del , LRG_774:g.39335_39337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5185_5187del
ENST00000685743.1:n.2660_2662del
ENST00000686057.1:n.1303_1305del
ENST00000689321.1:n.1915_1917del
ENST00000689986.1:n.741_743del
ENST00000361804.5:c.2952_2954del MANE Select	ENSP00000354720.5:p.Lys985del
ENST00000361804.4:c.2952_2954del	ENSP00000354720.4:p.Lys985del
NM_005445.3:c.2952_2954del , LRG_774t1:c.2952_2954del	NP_005436.1:p.Lys985del
NM_005445.4:c.2952_2954del MANE Select	NP_005436.1:p.Lys985del