Canonical Allele Identifier: CA2579615500
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53380778-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53380782del , CM000685.2:g.53380782del GRCh38
NC_000023.10:g.53407703del , CM000685.1:g.53407703del GRCh37
NC_000023.9:g.53424428del NCBI36
NG_006988.2:g.46892del , LRG_773:g.46892del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3508-49del MANE Select ENSP00000323421.3:n.3508-49del
ENST00000674590.1:c.2740-49del ENSP00000502626.1:n.2740-49del
ENST00000675504.1:c.3442-49del ENSP00000502524.1:n.3442-49del
ENST00000322213.8:c.3508-49del ENSP00000323421.3:n.3508-49del
ENST00000375340.10:c.3442-49del ENSP00000364489.7:n.3442-49del
ENST00000470241.2:c.728-49del
NM_001281463.1:c.3442-49del , LRG_773t1:c.3442-49del NP_001268392.1:n.3442-49del
NM_006306.3:c.3508-49del , LRG_773t2:c.3508-49del NP_006297.2:n.3508-49del
NM_006306.4:c.3508-49del MANE Select NP_006297.2:n.3508-49del
Search 100 bp 5'
Search 100 bp 3'