Canonical Allele Identifier: CA2626381986

Gene: BDKRB2

Linked Data

• gnomAD v4: 14-96204878-ACGGTGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96204879_96204886del , CM000676.2:g.96204879_96204886del	GRCh38
NC_000014.8:g.96671216_96671223del , CM000676.1:g.96671216_96671223del	GRCh37
NC_000014.7:g.95740969_95740976del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554311.2:c.-120_-113del MANE Select	ENSP00000450482.1:n.-120_-113del
ENST00000539359.1:c.-362_-355del	ENSP00000438376.1:n.-362_-355del
ENST00000542454.2:c.-2888_-2881del	ENSP00000439459.2:n.-2888_-2881del
ENST00000553811.1:c.-115_-108del	ENSP00000450984.1:n.-115_-108del
ENST00000554311.1:c.-120_-113del	ENSP00000450482.1:n.-120_-113del
NM_000623.3:c.-115_-108del	NP_000614.1:n.-115_-108del
NM_000623.4:c.-115_-108del	NP_000614.1:n.-115_-108del
NM_001379692.1:c.-120_-113del MANE Select	NP_001366621.1:n.-120_-113del