Canonical Allele Identifier: CA2693805417
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53409302-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53409303del , CM000685.2:g.53409303del GRCh38
NC_000023.10:g.53436234del , CM000685.1:g.53436234del GRCh37
NC_000023.9:g.53452959del NCBI36
NG_006988.2:g.18368del , LRG_773:g.18368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1338-34del MANE Select ENSP00000323421.3:n.1338-34del
ENST00000674590.1:c.570-34del ENSP00000502626.1:n.570-34del
ENST00000675065.1:n.690-34del
ENST00000675504.1:c.1272-34del ENSP00000502524.1:n.1272-34del
ENST00000322213.8:c.1338-34del ENSP00000323421.3:n.1338-34del
ENST00000375340.10:c.1272-34del ENSP00000364489.7:n.1272-34del
NM_001281463.1:c.1272-34del , LRG_773t1:c.1272-34del NP_001268392.1:n.1272-34del
NM_006306.3:c.1338-34del , LRG_773t2:c.1338-34del NP_006297.2:n.1338-34del
NM_006306.4:c.1338-34del MANE Select NP_006297.2:n.1338-34del
Search 100 bp 5'
Search 100 bp 3'