Canonical Allele Identifier: CA581430179
Gene: ADRB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.37965574del
GRCh37 chr8:g.37823092del
gnomAD v2:
8:37823091 GC / G
gnomAD v3:
8:37965573 GC / G
gnomAD v4:
chr8-37965573-GC-G
Joint Max Group AF 0.00000441 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000319 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965576del , CM000670.2:g.37965576del GRCh38
NC_000008.10:g.37823094del , CM000670.1:g.37823094del GRCh37
NC_000008.9:g.37942251del NCBI36
NG_011936.1:g.6093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000345060.5:c.896del MANE Select ENSP00000343782.3:p.Gly299AlafsTer24
ENST00000520341.2:n.1024del
ENST00000647937.1:c.380del ENSP00000497740.1:p.Gly127AlafsTer24
ENST00000345060.4:c.896del ENSP00000343782.3:p.Gly299AlafsTer24
ENST00000520341.1:n.171del
ENST00000614635.1:c.896del ENSP00000480325.1:p.Gly299AlafsTer24
NM_000025.2:c.896del NP_000016.1:p.Gly299AlafsTer24
NM_000025.3:c.896del MANE Select NP_000016.1:p.Gly299AlafsTer24
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