Canonical Allele Identifier: CA2626382128
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96205010-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96205013del , CM000676.2:g.96205013del GRCh38
NC_000014.8:g.96671350del , CM000676.1:g.96671350del GRCh37
NC_000014.7:g.95741103del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-40+54del MANE Select ENSP00000450482.1:n.-40+54del
ENST00000539359.1:c.-282+54del ENSP00000438376.1:n.-282+54del
ENST00000542454.2:c.-2808+54del ENSP00000439459.2:n.-2808+54del
ENST00000553811.1:c.-35+54del ENSP00000450984.1:n.-35+54del
ENST00000554311.1:c.-40+54del ENSP00000450482.1:n.-40+54del
NM_000623.3:c.-35+54del NP_000614.1:n.-35+54del
NM_000623.4:c.-35+54del NP_000614.1:n.-35+54del
NM_001379692.1:c.-40+54del MANE Select NP_001366621.1:n.-40+54del
Search 100 bp 5'
Search 100 bp 3'