Canonical Allele Identifier: CA2580612340
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1343250
ClinVar RCV Id: RCV001843849 RCV001843850
dbSNP Id: rs2146599562
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405274_53405276del , CM000685.2:g.53405274_53405276del GRCh38
NC_000023.10:g.53432206_53432208del , CM000685.1:g.53432206_53432208del GRCh37
NC_000023.9:g.53448931_53448933del NCBI36
NG_006988.2:g.22400_22402del , LRG_773:g.22400_22402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.2032_2034del MANE Select ENSP00000323421.3:p.Lys678del
ENST00000674590.1:c.1264_1266del ENSP00000502626.1:p.Lys422del
ENST00000675065.1:n.1384_1386del
ENST00000675504.1:c.1966_1968del ENSP00000502524.1:p.Lys656del
ENST00000322213.8:c.2032_2034del ENSP00000323421.3:p.Lys678del
ENST00000375340.10:c.1966_1968del ENSP00000364489.7:p.Lys656del
NM_001281463.1:c.1966_1968del , LRG_773t1:c.1966_1968del NP_001268392.1:p.Lys656del
NM_006306.3:c.2032_2034del , LRG_773t2:c.2032_2034del NP_006297.2:p.Lys678del
NM_006306.4:c.2032_2034del MANE Select NP_006297.2:p.Lys678del
Search 100 bp 5'
Search 100 bp 3'