Canonical Allele Identifier: CA2626382141

Gene: BDKRB2

Linked Data

• gnomAD v4: 14-96205022-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96205025_96205026del , CM000676.2:g.96205025_96205026del	GRCh38
NC_000014.8:g.96671362_96671363del , CM000676.1:g.96671362_96671363del	GRCh37
NC_000014.7:g.95741115_95741116del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-40+66_-40+67del MANE Select	ENSP00000450482.1:n.-40+66_-40+67del
ENST00000539359.1:c.-282+66_-282+67del	ENSP00000438376.1:n.-282+66_-282+67del
ENST00000542454.2:c.-2808+66_-2808+67del	ENSP00000439459.2:n.-2808+66_-2808+67del
ENST00000553811.1:c.-35+66_-35+67del	ENSP00000450984.1:n.-35+66_-35+67del
ENST00000554311.1:c.-40+66_-40+67del	ENSP00000450482.1:n.-40+66_-40+67del
NM_000623.3:c.-35+66_-35+67del	NP_000614.1:n.-35+66_-35+67del
NM_000623.4:c.-35+66_-35+67del	NP_000614.1:n.-35+66_-35+67del
NM_001379692.1:c.-40+66_-40+67del MANE Select	NP_001366621.1:n.-40+66_-40+67del