Canonical Allele Identifier: CA2745537
Community Standard Title: NM_000412.5(HRG):c.99del (p.Ala34LeufsTer2)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186666130del , CM000665.2:g.186666130del GRCh38
NC_000003.11:g.186383919del , CM000665.1:g.186383919del GRCh37
NC_000003.10:g.187866613del NCBI36
NG_021485.2:g.10915del , LRG_601:g.10915del

Transcript Alleles

HGVS Amino-acid Change
NM_000412.5:c.99del (HRG) MANE Select NP_000403.1:p.Ala34LeufsTer2
ENST00000232003.5:c.99del (HRG) MANE Select ENSP00000232003.4:p.Ala34LeufsTer2
NM_000412.3:c.99del (HRG) NP_000403.1:p.Ala34LeufsTer2
NM_000412.4:c.99del , LRG_601t1:c.99del (HRG) NP_000403.1:p.Ala34LeufsTer2
ENST00000232003.4:c.99del (HRG) ENSP00000232003.4:p.Ala34LeufsTer2
ENST00000468154.1:n.531del (HRG)
XM_005247415.3:c.99del (HRG) XP_005247472.1:p.Ala34LeufsTer2
XM_005247415.4:c.99del (HRG) XP_005247472.1:p.Ala34LeufsTer2
XR_001741059.1:n.291-14257del (HRG-AS1)
XR_924801.1:n.290-14257del (HRG-AS1)
XR_924801.2:n.291-14257del (HRG-AS1)