Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958145_150958146insAGGCAGAGGTTCGCACCCGCGAAGCCGAGGCGCACTCGACGGCAGATAAGGCTCGCTGGGTGATGAGCATTGCGATCTCGCACATCAACCGTCTCGATGCCCATATCGCCGCCGGTTCCCCGCCGCCAC , CM000669.2:g.150958145_150958146insAGGCAGAGGTTCGCACCCGCGAAGCCGAGGCGCACTCGACGGCAGATAAGGCTCGCTGGGTGATGAGCATTGCGATCTCGCACATCAACCGTCTCGATGCCCATATCGCCGCCGGTTCCCCGCCGCCAC	GRCh38
NC_000007.13:g.150655233_150655234insAGGCAGAGGTTCGCACCCGCGAAGCCGAGGCGCACTCGACGGCAGATAAGGCTCGCTGGGTGATGAGCATTGCGATCTCGCACATCAACCGTCTCGATGCCCATATCGCCGCCGGTTCCCCGCCGCCAC , CM000669.1:g.150655233_150655234insAGGCAGAGGTTCGCACCCGCGAAGCCGAGGCGCACTCGACGGCAGATAAGGCTCGCTGGGTGATGAGCATTGCGATCTCGCACATCAACCGTCTCGATGCCCATATCGCCGCCGGTTCCCCGCCGCCAC	GRCh37
NC_000007.12:g.150286166_150286167insAGGCAGAGGTTCGCACCCGCGAAGCCGAGGCGCACTCGACGGCAGATAAGGCTCGCTGGGTGATGAGCATTGCGATCTCGCACATCAACCGTCTCGATGCCCATATCGCCGCCGGTTCCCCGCCGCCAC	NCBI36
NG_008916.1:g.24781_24782insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT , LRG_288:g.24781_24782insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1662_1663insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT
ENST00000262186.10:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT MANE Select	ENSP00000262186.5:p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTr...
ENST00000262186.9:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	ENSP00000262186.5:p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTr...
ENST00000430723.4:c.481_482insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	ENSP00000387657.4:p.Ala161delinsGlyGlyGlyGlyGluProAlaAlaIleTr...
ENST00000532957.5:n.1052_1053insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT
NM_000238.3:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT , LRG_288t1:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	NP_000229.1:p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSe...
NM_172056.2:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT , LRG_288t2:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	NP_742053.1:p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSe...
XM_011516185.1:c.529_530insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	XP_011514487.1:p.Ala177delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAl...
XM_011516186.1:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	XP_011514488.1:p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAl...
XM_011516185.2:c.529_530insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	XP_011514487.1:p.Ala177delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAl...
XM_011516186.3:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	XP_011514488.1:p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAl...
XM_017012195.1:c.679_680insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	XP_016867684.1:p.Ala227delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAl...
XM_017012196.1:c.652_653insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT	XP_016867685.1:p.Ala218delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAl...
NM_000238.4:c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT MANE Select	NP_000229.1:p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSe...