Canonical Allele Identifier: CA2802711451
Gene: BDKRB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204886_96204890del , CM000676.2:g.96204886_96204890del GRCh38
NC_000014.8:g.96671223_96671227del , CM000676.1:g.96671223_96671227del GRCh37
NC_000014.7:g.95740976_95740980del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-113_-109del MANE Select ENSP00000450482.1:n.-113_-109del
ENST00000539359.1:c.-355_-351del ENSP00000438376.1:n.-355_-351del
ENST00000542454.2:c.-2881_-2877del ENSP00000439459.2:n.-2881_-2877del
ENST00000553811.1:c.-108_-104del ENSP00000450984.1:n.-108_-104del
ENST00000554311.1:c.-113_-109del ENSP00000450482.1:n.-113_-109del
NM_000623.3:c.-108_-104del NP_000614.1:n.-108_-104del
NM_000623.4:c.-108_-104del NP_000614.1:n.-108_-104del
NM_001379692.1:c.-113_-109del MANE Select NP_001366621.1:n.-113_-109del