Canonical Allele Identifier: CA2686023172
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877878del , CM000670.2:g.6877878del GRCh38
NC_000008.10:g.6735400del , CM000670.1:g.6735400del GRCh37
NC_000008.9:g.6722810del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-19del MANE Select ENSP00000297439.3:n.-19del
ENST00000297439.3:c.-19del ENSP00000297439.3:n.-19del
NM_005218.3:c.-19del NP_005209.1:n.-19del
NM_005218.4:c.-19del MANE Select NP_005209.1:n.-19del