Canonical Allele Identifier: CA16044384
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 375616
ClinVar RCV Id: RCV000417105
dbSNP Id: rs1057519398

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53409218_53409219insG , CM000685.2:g.53409218_53409219insG GRCh38
NC_000023.10:g.53436149_53436150insG , CM000685.1:g.53436149_53436150insG GRCh37
NC_000023.9:g.53452874_53452875insG NCBI36
NG_006988.2:g.18452_18453insC , LRG_773:g.18452_18453insC

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.1388_1389insC MANE Select ENSP00000323421.3:p.Glu464GlyfsTer8
ENST00000674590.1:c.620_621insC ENSP00000502626.1:p.Glu208GlyfsTer8
ENST00000675065.1:n.740_741insC
ENST00000675504.1:c.1322_1323insC ENSP00000502524.1:p.Glu442GlyfsTer8
ENST00000322213.8:c.1388_1389insC ENSP00000323421.3:p.Glu464GlyfsTer8
ENST00000375340.10:c.1322_1323insC ENSP00000364489.7:p.Glu442GlyfsTer8
NM_001281463.1:c.1322_1323insC , LRG_773t1:c.1322_1323insC NP_001268392.1:p.Glu442GlyfsTer8
NM_006306.3:c.1388_1389insC , LRG_773t2:c.1388_1389insC NP_006297.2:p.Glu464GlyfsTer8
NM_006306.4:c.1388_1389insC MANE Select NP_006297.2:p.Glu464GlyfsTer8