Canonical Allele Identifier: CA658799760
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 532573
ClinVar RCV Id: RCV000639415
dbSNP Id: rs1556890626

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53412249_53412251del , CM000685.2:g.53412249_53412251del GRCh38
NC_000023.10:g.53439199_53439201del , CM000685.1:g.53439199_53439201del GRCh37
NC_000023.9:g.53455924_53455926del NCBI36
NG_006988.2:g.15422_15424del , LRG_773:g.15422_15424del

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.859_861del MANE Select ENSP00000323421.3:p.Lys287del
ENST00000674590.1:c.346-348_346-346del ENSP00000502626.1:n.346-348_346-346del
ENST00000675065.1:n.466-348_466-346del
ENST00000675504.1:c.793_795del ENSP00000502524.1:p.Lys265del
ENST00000322213.8:c.859_861del ENSP00000323421.3:p.Lys287del
ENST00000375340.10:c.793_795del ENSP00000364489.7:p.Lys265del
ENST00000463684.1:c.*392_*394del ENSP00000476958.1:n.*392_*394del
NM_001281463.1:c.793_795del , LRG_773t1:c.793_795del NP_001268392.1:p.Lys265del
NM_006306.3:c.859_861del , LRG_773t2:c.859_861del NP_006297.2:p.Lys287del
NM_006306.4:c.859_861del MANE Select NP_006297.2:p.Lys287del