Canonical Allele Identifier: CA2686023112
Gene: DEFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877727_6877728insAGCC , CM000670.2:g.6877727_6877728insAGCC GRCh38
NC_000008.10:g.6735249_6735250insAGCC , CM000670.1:g.6735249_6735250insAGCC GRCh37
NC_000008.9:g.6722659_6722660insAGCC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+70_61+71insGCTG MANE Select ENSP00000297439.3:n.61+70_61+71insGCTG
ENST00000297439.3:c.61+70_61+71insGCTG ENSP00000297439.3:n.61+70_61+71insGCTG
NM_005218.3:c.61+70_61+71insGCTG NP_005209.1:n.61+70_61+71insGCTG
NM_005218.4:c.61+70_61+71insGCTG MANE Select NP_005209.1:n.61+70_61+71insGCTG