Canonical Allele Identifier: CA2573055364
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1180764
ClinVar RCV Id: RCV001814493
dbSNP Id: rs2146599602
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405326del , CM000685.2:g.53405326del GRCh38
NC_000023.10:g.53432258del , CM000685.1:g.53432258del GRCh37
NC_000023.9:g.53448983del NCBI36
NG_006988.2:g.22345del , LRG_773:g.22345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1977del MANE Select ENSP00000323421.3:p.Lys660ArgfsTer12
ENST00000674590.1:c.1209del ENSP00000502626.1:p.Lys404ArgfsTer12
ENST00000675065.1:n.1329del
ENST00000675504.1:c.1911del ENSP00000502524.1:p.Lys638ArgfsTer12
ENST00000322213.8:c.1977del ENSP00000323421.3:p.Lys660ArgfsTer12
ENST00000375340.10:c.1911del ENSP00000364489.7:p.Lys638ArgfsTer12
NM_001281463.1:c.1911del , LRG_773t1:c.1911del NP_001268392.1:p.Lys638ArgfsTer12
NM_006306.3:c.1977del , LRG_773t2:c.1977del NP_006297.2:p.Lys660ArgfsTer12
NM_006306.4:c.1977del MANE Select NP_006297.2:p.Lys660ArgfsTer12
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