Canonical Allele Identifier: CA2686023183
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877897del , CM000670.2:g.6877897del GRCh38
NC_000008.10:g.6735419del , CM000670.1:g.6735419del GRCh37
NC_000008.9:g.6722829del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-37del MANE Select ENSP00000297439.3:n.-37del
ENST00000297439.3:c.-37del ENSP00000297439.3:n.-37del
NM_005218.3:c.-37del NP_005209.1:n.-37del
NM_005218.4:c.-37del MANE Select NP_005209.1:n.-37del