Canonical Allele Identifier: CA333590
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 180197
ClinVar RCV Id: RCV000157049 RCV000626897
dbSNP Id: rs727503773
MyVariant Identifiers: chrX:g.53439900_53439902del (hg19) chrX:g.53412950_53412952del (hg38)
PubMed: PMID:25574841
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53412958_53412960del , CM000685.2:g.53412958_53412960del GRCh38
NC_000023.10:g.53439908_53439910del , CM000685.1:g.53439908_53439910del GRCh37
NC_000023.9:g.53456633_53456635del NCBI36
NG_006988.2:g.14719_14721del , LRG_773:g.14719_14721del

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.802_804del MANE Select ENSP00000323421.3:p.Lys268del
ENST00000674590.1:c.346-1051_346-1049del ENSP00000502626.1:n.346-1051_346-1049del
ENST00000675065.1:n.466-1051_466-1049del
ENST00000675504.1:c.736_738del ENSP00000502524.1:p.Lys246del
ENST00000322213.8:c.802_804del ENSP00000323421.3:p.Lys268del
ENST00000375340.10:c.736_738del ENSP00000364489.7:p.Lys246del
ENST00000428014.1:c.736_738del ENSP00000413509.2:p.Lys246del
ENST00000463684.1:c.*335_*337del ENSP00000476958.1:n.*335_*337del
NM_001281463.1:c.736_738del , LRG_773t1:c.736_738del NP_001268392.1:p.Lys246del
NM_006306.3:c.802_804del , LRG_773t2:c.802_804del NP_006297.2:p.Lys268del
NM_006306.4:c.802_804del MANE Select NP_006297.2:p.Lys268del
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