Canonical Allele Identifier: CA2626381971

Gene: BDKRB2

Linked Data

• gnomAD v4: 14-96204872-GTGGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204873_96204878del , CM000676.2:g.96204873_96204878del	GRCh38
NC_000014.8:g.96671210_96671215del , CM000676.1:g.96671210_96671215del	GRCh37
NC_000014.7:g.95740963_95740968del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-126_-121del MANE Select	ENSP00000450482.1:n.-126_-121del
ENST00000539359.1:c.-368_-363del	ENSP00000438376.1:n.-368_-363del
ENST00000542454.2:c.-2894_-2889del	ENSP00000439459.2:n.-2894_-2889del
ENST00000553811.1:c.-121_-116del	ENSP00000450984.1:n.-121_-116del
ENST00000554311.1:c.-126_-121del	ENSP00000450482.1:n.-126_-121del
NM_000623.3:c.-121_-116del	NP_000614.1:n.-121_-116del
NM_000623.4:c.-121_-116del	NP_000614.1:n.-121_-116del
NM_001379692.1:c.-126_-121del MANE Select	NP_001366621.1:n.-126_-121del