Canonical Allele Identifier: CA2778897137
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877776_6877777del , CM000670.2:g.6877776_6877777del GRCh38
NC_000008.10:g.6735298_6735299del , CM000670.1:g.6735298_6735299del GRCh37
NC_000008.9:g.6722708_6722709del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+22_61+23del MANE Select ENSP00000297439.3:n.61+22_61+23del
ENST00000297439.3:c.61+22_61+23del ENSP00000297439.3:n.61+22_61+23del
NM_005218.3:c.61+22_61+23del NP_005209.1:n.61+22_61+23del
NM_005218.4:c.61+22_61+23del MANE Select NP_005209.1:n.61+22_61+23del