Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880569delinsCCCCTC , CM000683.2:g.34880569delinsCCCCTC	GRCh38
NC_000021.8:g.36252866delinsCCCCTC , CM000683.1:g.36252866delinsCCCCTC	GRCh37
NC_000021.7:g.35174736delinsCCCCTC	NCBI36
NG_011402.2:g.1109143delinsGAGGGG , LRG_482:g.1109143delinsGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.496delinsGAGGGG MANE Select	ENSP00000501943.1:p.Arg166GlufsTer12
ENST00000300305.7:c.496delinsGAGGGG	ENSP00000300305.3:p.Arg166GlufsTer12
ENST00000344691.8:c.415delinsGAGGGG	ENSP00000340690.4:p.Arg139GlufsTer12
ENST00000358356.9:c.415delinsGAGGGG	ENSP00000351123.5:p.Arg139GlufsTer12
ENST00000399237.6:c.460delinsGAGGGG	ENSP00000382182.2:p.Arg154GlufsTer12
ENST00000399240.5:c.415delinsGAGGGG	ENSP00000382184.1:p.Arg139GlufsTer12
ENST00000437180.5:c.496delinsGAGGGG	ENSP00000409227.1:p.Arg166GlufsTer12
ENST00000482318.5:c.*86delinsGAGGGG	ENSP00000477067.1:n.*86delinsGAGGGG
NM_001001890.2:c.415delinsGAGGGG	NP_001001890.1:p.Arg139GlufsTer12
NM_001122607.1:c.415delinsGAGGGG	NP_001116079.1:p.Arg139GlufsTer12
NM_001754.4:c.496delinsGAGGGG , LRG_482t1:c.496delinsGAGGGG	NP_001745.2:p.Arg166GlufsTer12
XM_005261068.3:c.460delinsGAGGGG	XP_005261125.1:p.Arg154GlufsTer12
XM_005261069.3:c.496delinsGAGGGG	XP_005261126.1:p.Arg166GlufsTer12
XM_011529766.1:c.496delinsGAGGGG	XP_011528068.1:p.Arg166GlufsTer12
XM_011529767.1:c.457delinsGAGGGG	XP_011528069.1:p.Arg153GlufsTer12
XM_011529768.1:c.457delinsGAGGGG	XP_011528070.1:p.Arg153GlufsTer12
XM_011529770.1:c.496delinsGAGGGG	XP_011528072.1:p.Arg166GlufsTer12
XR_937576.1:n.675delinsGAGGGG
XM_005261069.4:c.496delinsGAGGGG	XP_005261126.1:p.Arg166GlufsTer12
XM_011529766.2:c.496delinsGAGGGG	XP_011528068.1:p.Arg166GlufsTer12
XM_011529767.2:c.457delinsGAGGGG	XP_011528069.1:p.Arg153GlufsTer12
XM_011529768.2:c.457delinsGAGGGG	XP_011528070.1:p.Arg153GlufsTer12
XM_011529770.2:c.496delinsGAGGGG	XP_011528072.1:p.Arg166GlufsTer12
XM_017028487.1:c.343delinsGAGGGG	XP_016883976.1:p.Arg115GlufsTer12
XR_937576.2:n.722delinsGAGGGG
NM_001001890.3:c.415delinsGAGGGG	NP_001001890.1:p.Arg139GlufsTer12
NM_001122607.2:c.415delinsGAGGGG	NP_001116079.1:p.Arg139GlufsTer12
NM_001754.5:c.496delinsGAGGGG MANE Select	NP_001745.2:p.Arg166GlufsTer12