Canonical Allele Identifier: CA2626382115

Gene: BDKRB2

Linked Data

• gnomAD v4: 14-96204998-CTGCTGGGAGGACAAACTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204999_96205017del , CM000676.2:g.96204999_96205017del	GRCh38
NC_000014.8:g.96671336_96671354del , CM000676.1:g.96671336_96671354del	GRCh37
NC_000014.7:g.95741089_95741107del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-40+40_-40+58del MANE Select	ENSP00000450482.1:n.-40+40_-40+58del
ENST00000539359.1:c.-282+40_-282+58del	ENSP00000438376.1:n.-282+40_-282+58del
ENST00000542454.2:c.-2808+40_-2808+58del	ENSP00000439459.2:n.-2808+40_-2808+58del
ENST00000553811.1:c.-35+40_-35+58del	ENSP00000450984.1:n.-35+40_-35+58del
ENST00000554311.1:c.-40+40_-40+58del	ENSP00000450482.1:n.-40+40_-40+58del
NM_000623.3:c.-35+40_-35+58del	NP_000614.1:n.-35+40_-35+58del
NM_000623.4:c.-35+40_-35+58del	NP_000614.1:n.-35+40_-35+58del
NM_001379692.1:c.-40+40_-40+58del MANE Select	NP_001366621.1:n.-40+40_-40+58del