Canonical Allele Identifier: CA2968258231
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877889dup , CM000670.2:g.6877889dup GRCh38
NC_000008.10:g.6735411dup , CM000670.1:g.6735411dup GRCh37
NC_000008.9:g.6722821dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-31dup MANE Select ENSP00000297439.3:n.-31dup
ENST00000297439.3:c.-31dup ENSP00000297439.3:n.-31dup
NM_005218.3:c.-31dup NP_005209.1:n.-31dup
NM_005218.4:c.-31dup MANE Select NP_005209.1:n.-31dup