Canonical Allele Identifier: CA2497305422
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs1860991031

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578686_110578688del , CM000672.2:g.110578686_110578688del GRCh38
NC_000010.10:g.112338444_112338446del , CM000672.1:g.112338444_112338446del GRCh37
NC_000010.9:g.112328434_112328436del NCBI36
NG_012217.1:g.15996_15998del , LRG_774:g.15996_15998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.542_544del
ENST00000687823.1:n.323_325del
ENST00000689932.1:n.2472_2474del
ENST00000691297.1:n.542_544del
ENST00000691527.1:n.1212_1214del
ENST00000692792.1:n.528_530del
ENST00000361804.5:c.409_411del MANE Select ENSP00000354720.5:p.Tyr137del
ENST00000361804.4:c.409_411del ENSP00000354720.4:p.Tyr137del
ENST00000462899.1:n.555_557del
NM_005445.3:c.409_411del , LRG_774t1:c.409_411del NP_005436.1:p.Tyr137del
NM_005445.4:c.409_411del MANE Select NP_005436.1:p.Tyr137del