Canonical Allele Identifier: CA581430209

Gene: ADRB3

Linked Data

• dbSNP Id: rs1397940390
• gnomAD v2: 8-37823304-GAA-G
• gnomAD v4: 8-37965786-GAA-G
• MyVariant Identifiers: chr8:g.37823305_37823306del (hg19) ; chr8:g.37965787_37965788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37965789_37965790del , CM000670.2:g.37965789_37965790del	GRCh38
NC_000008.10:g.37823307_37823308del , CM000670.1:g.37823307_37823308del	GRCh37
NC_000008.9:g.37942464_37942465del	NCBI36
NG_011936.1:g.5879_5880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345060.5:c.682_683del MANE Select	ENSP00000343782.3:p.Phe228ArgfsTer?
ENST00000520341.2:n.810_811del
ENST00000647937.1:c.166_167del	ENSP00000497740.1:p.Phe56ArgfsTer?
ENST00000345060.4:c.682_683del	ENSP00000343782.3:p.Phe228ArgfsTer?
ENST00000614635.1:c.682_683del	ENSP00000480325.1:p.Phe228ArgfsTer?
NM_000025.2:c.682_683del	NP_000016.1:p.Phe228ArgfsTer?
NM_000025.3:c.682_683del MANE Select	NP_000016.1:p.Phe228ArgfsTer?