Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880575_34880576insTGGTGAC , CM000683.2:g.34880575_34880576insTGGTGAC	GRCh38
NC_000021.8:g.36252872_36252873insTGGTGAC , CM000683.1:g.36252872_36252873insTGGTGAC	GRCh37
NC_000021.7:g.35174742_35174743insTGGTGAC	NCBI36
NG_011402.2:g.1109139_1109140insACCAGTC , LRG_482:g.1109139_1109140insACCAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.492_493insACCAGTC MANE Select	ENSP00000501943.1:p.Gly165ThrfsTer?
ENST00000300305.7:c.492_493insACCAGTC	ENSP00000300305.3:p.Gly165ThrfsTer?
ENST00000344691.8:c.411_412insACCAGTC	ENSP00000340690.4:p.Gly138ThrfsTer?
ENST00000358356.9:c.411_412insACCAGTC	ENSP00000351123.5:p.Gly138ThrfsTer?
ENST00000399237.6:c.456_457insACCAGTC	ENSP00000382182.2:p.Gly153ThrfsTer?
ENST00000399240.5:c.411_412insACCAGTC	ENSP00000382184.1:p.Gly138ThrfsTer?
ENST00000437180.5:c.492_493insACCAGTC	ENSP00000409227.1:p.Gly165ThrfsTer?
ENST00000482318.5:c.82_83insACCAGTC	ENSP00000477067.1:n.82_83insACCAGTC
NM_001001890.2:c.411_412insACCAGTC	NP_001001890.1:p.Gly138ThrfsTer?
NM_001122607.1:c.411_412insACCAGTC	NP_001116079.1:p.Gly138ThrfsTer?
NM_001754.4:c.492_493insACCAGTC , LRG_482t1:c.492_493insACCAGTC	NP_001745.2:p.Gly165ThrfsTer?
XM_005261068.3:c.456_457insACCAGTC	XP_005261125.1:p.Gly153ThrfsTer?
XM_005261069.3:c.492_493insACCAGTC	XP_005261126.1:p.Gly165ThrfsTer?
XM_011529766.1:c.492_493insACCAGTC	XP_011528068.1:p.Gly165ThrfsTer?
XM_011529767.1:c.453_454insACCAGTC	XP_011528069.1:p.Gly152ThrfsTer?
XM_011529768.1:c.453_454insACCAGTC	XP_011528070.1:p.Gly152ThrfsTer?
XM_011529770.1:c.492_493insACCAGTC	XP_011528072.1:p.Gly165ThrfsTer?
XR_937576.1:n.671_672insACCAGTC
XM_005261069.4:c.492_493insACCAGTC	XP_005261126.1:p.Gly165ThrfsTer?
XM_011529766.2:c.492_493insACCAGTC	XP_011528068.1:p.Gly165ThrfsTer?
XM_011529767.2:c.453_454insACCAGTC	XP_011528069.1:p.Gly152ThrfsTer?
XM_011529768.2:c.453_454insACCAGTC	XP_011528070.1:p.Gly152ThrfsTer?
XM_011529770.2:c.492_493insACCAGTC	XP_011528072.1:p.Gly165ThrfsTer?
XM_017028487.1:c.339_340insACCAGTC	XP_016883976.1:p.Gly114ThrfsTer?
XR_937576.2:n.718_719insACCAGTC
NM_001001890.3:c.411_412insACCAGTC	NP_001001890.1:p.Gly138ThrfsTer?
NM_001122607.2:c.411_412insACCAGTC	NP_001116079.1:p.Gly138ThrfsTer?
NM_001754.5:c.492_493insACCAGTC MANE Select	NP_001745.2:p.Gly165ThrfsTer?