Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092492_43092494delinsTTC , CM000679.2:g.43092492_43092494delinsTTC	GRCh38
NC_000017.10:g.41244509_41244511delinsTTC , CM000679.1:g.41244509_41244511delinsTTC	GRCh37
NC_000017.9:g.38498035_38498037delinsTTC	NCBI36
NG_005905.2:g.125490_125492delinsGAA , LRG_292:g.125490_125492delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3101_3103delinsGAA
ENST00000461574.2:c.3037_3039delinsGAA	ENSP00000417241.2:p.Glu1013=
ENST00000470026.6:c.3037_3039delinsGAA	ENSP00000419274.2:p.Glu1013=
ENST00000473961.6:c.2911_2913delinsGAA	ENSP00000420201.2:p.Glu971=
ENST00000476777.6:c.3034_3036delinsGAA	ENSP00000417554.2:p.Glu1012=
ENST00000477152.6:c.2959_2961delinsGAA	ENSP00000419988.2:p.Glu987=
ENST00000478531.6:c.785-1462_785-1460delinsGAA	ENSP00000420412.2:n.785-1462_785-1460delinsGAA
ENST00000489037.2:c.2959_2961delinsGAA	ENSP00000420781.2:p.Glu987=
ENST00000493919.6:c.647-1462_647-1460delinsGAA	ENSP00000418819.2:n.647-1462_647-1460delinsGAA
ENST00000494123.6:c.3037_3039delinsGAA	ENSP00000419103.2:p.Glu1013=
ENST00000497488.2:c.2149_2151delinsGAA	ENSP00000418986.2:p.Glu717=
ENST00000618469.2:c.3037_3039delinsGAA	ENSP00000478114.2:p.Glu1013=
ENST00000634433.2:c.2914_2916delinsGAA	ENSP00000489431.2:p.Glu972=
ENST00000644379.2:c.3037_3039delinsGAA	ENSP00000496570.2:p.Glu1013=
ENST00000644555.2:c.647-1462_647-1460delinsGAA	ENSP00000494614.2:n.647-1462_647-1460delinsGAA
ENST00000652672.2:c.2896_2898delinsGAA	ENSP00000498906.2:p.Glu966=
ENST00000484087.6:c.665-1462_665-1460delinsGAA	ENSP00000419481.2:n.665-1462_665-1460delinsGAA
ENST00000700182.1:c.707-1462_707-1460delinsGAA	ENSP00000514849.1:n.707-1462_707-1460delinsGAA
ENST00000357654.9:c.3037_3039delinsGAA MANE Select	ENSP00000350283.3:p.Glu1013=
ENST00000471181.7:c.3037_3039delinsGAA	ENSP00000418960.2:p.Glu1013=
ENST00000352993.7:c.671-1462_671-1460delinsGAA	ENSP00000312236.5:n.671-1462_671-1460delinsGAA
ENST00000354071.7:c.3037_3039delinsGAA	ENSP00000326002.7:p.Glu1013=
ENST00000357654.7:c.3037_3039delinsGAA	ENSP00000350283.3:p.Glu1013=
ENST00000461221.5:c.2820_2822delinsGAA	ENSP00000418548.1:n.2820_2822delinsGAA
ENST00000468300.5:c.788-1462_788-1460delinsGAA	ENSP00000417148.1:n.788-1462_788-1460delinsGAA
ENST00000471181.6:c.3037_3039delinsGAA	ENSP00000418960.2:p.Glu1013=
ENST00000478531.5:c.785-1462_785-1460delinsGAA	ENSP00000420412.1:n.785-1462_785-1460delinsGAA
ENST00000484087.5:c.410-1462_410-1460delinsGAA	ENSP00000419481.1:n.410-1462_410-1460delinsGAA
ENST00000487825.5:c.413-1462_413-1460delinsGAA	ENSP00000418212.1:n.413-1462_413-1460delinsGAA
ENST00000491747.6:c.788-1462_788-1460delinsGAA	ENSP00000420705.2:n.788-1462_788-1460delinsGAA
ENST00000493795.5:c.2896_2898delinsGAA	ENSP00000418775.1:p.Glu966=
ENST00000493919.5:c.647-1462_647-1460delinsGAA	ENSP00000418819.1:n.647-1462_647-1460delinsGAA
ENST00000586385.5:c.5-28543_5-28541delinsGAA	ENSP00000465818.1:n.5-28543_5-28541delinsGAA
ENST00000591534.5:c.-43-17973_-43-17971delinsGAA	ENSP00000467329.1:n.-43-17973_-43-17971delinsGAA
ENST00000591849.5:c.-99+32777_-99+32779delinsGAA	ENSP00000465347.1:n.-99+32777_-99+32779delinsGAA
NM_007294.3:c.3037_3039delinsGAA , LRG_292t1:c.3037_3039delinsGAA	NP_009225.1:p.Glu1013=
NM_007297.3:c.2896_2898delinsGAA	NP_009228.2:p.Glu966=
NM_007298.3:c.788-1462_788-1460delinsGAA	NP_009229.2:n.788-1462_788-1460delinsGAA
NM_007299.3:c.788-1462_788-1460delinsGAA	NP_009230.2:n.788-1462_788-1460delinsGAA
NM_007300.3:c.3037_3039delinsGAA	NP_009231.2:p.Glu1013=
NR_027676.1:n.3173_3175delinsGAA
NM_007294.4:c.3037_3039delinsGAA MANE Select	NP_009225.1:p.Glu1013=
NM_007297.4:c.2896_2898delinsGAA	NP_009228.2:p.Glu966=
NM_007299.4:c.788-1462_788-1460delinsGAA	NP_009230.2:n.788-1462_788-1460delinsGAA
NM_007300.4:c.3037_3039delinsGAA	NP_009231.2:p.Glu1013=
NR_027676.2:n.3214_3216delinsGAA