Canonical Allele Identifier: CA1761188558
Gene: DEFB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877745C= , CM000670.2:g.6877745C= GRCh38
NC_000008.10:g.6735267C= , CM000670.1:g.6735267C= GRCh37
NC_000008.9:g.6722677C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+52G= MANE Select ENSP00000297439.3:n.61+52G=
ENST00000297439.3:c.61+52G= ENSP00000297439.3:n.61+52G=
NM_005218.3:c.61+52G= NP_005209.1:n.61+52G=
NM_005218.4:c.61+52G= MANE Select NP_005209.1:n.61+52G=
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