Canonical Allele Identifier: CA4714356
Community Standard Title: NM_000025.3(ADRB3):c.724_747dup (p.Leu242_Glu249dup)
Gene: ADRB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965727_37965750dup , CM000670.2:g.37965727_37965750dup GRCh38
NC_000008.10:g.37823245_37823268dup , CM000670.1:g.37823245_37823268dup GRCh37
NC_000008.9:g.37942402_37942425dup NCBI36
NG_011936.1:g.5921_5944dup

Transcript Alleles

HGVS Amino-acid Change
NM_000025.3:c.724_747dup MANE Select NP_000016.1:p.Glu249_Ser250insLeuGlyArgPheProProGluGlu
ENST00000345060.5:c.724_747dup MANE Select ENSP00000343782.3:p.Glu249_Ser250insLeuGlyArgPheProProGluGlu
NM_000025.2:c.724_747dup NP_000016.1:p.Glu249_Ser250insLeuGlyArgPheProProGluGlu
ENST00000345060.4:c.724_747dup ENSP00000343782.3:p.Glu249_Ser250insLeuGlyArgPheProProGluGlu
ENST00000520341.2:n.852_875dup
ENST00000614635.1:c.724_747dup ENSP00000480325.1:p.Glu249_Ser250insLeuGlyArgPheProProGluGlu
ENST00000647937.1:c.208_231dup ENSP00000497740.1:p.Glu77_Ser78insLeuGlyArgPheProProGluGlu