Canonical Allele Identifier: CA1761188611

Gene: DEFB1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877823_6877824delinsCA , CM000670.2:g.6877823_6877824delinsCA	GRCh38
NC_000008.10:g.6735345_6735346delinsCA , CM000670.1:g.6735345_6735346delinsCA	GRCh37
NC_000008.9:g.6722755_6722756delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.34_35delinsTG MANE Select	ENSP00000297439.3:p.Cys12=
ENST00000297439.3:c.34_35delinsTG	ENSP00000297439.3:p.Cys12=
NM_005218.3:c.34_35delinsTG	NP_005209.1:p.Cys12=
NM_005218.4:c.34_35delinsTG MANE Select	NP_005209.1:p.Cys12=