Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092301_43092305delinsCCTCT , CM000679.2:g.43092301_43092305delinsCCTCT	GRCh38
NC_000017.10:g.41244318_41244322delinsCCTCT , CM000679.1:g.41244318_41244322delinsCCTCT	GRCh37
NC_000017.9:g.38497844_38497848delinsCCTCT	NCBI36
NG_005905.2:g.125679_125683delinsAGAGG , LRG_292:g.125679_125683delinsAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3290_3294delinsAGAGG
ENST00000461574.2:c.3226_3230delinsAGAGG	ENSP00000417241.2:p.Arg1076=
ENST00000470026.6:c.3226_3230delinsAGAGG	ENSP00000419274.2:p.Arg1076=
ENST00000473961.6:c.3100_3104delinsAGAGG	ENSP00000420201.2:p.Arg1034=
ENST00000476777.6:c.3223_3227delinsAGAGG	ENSP00000417554.2:p.Arg1075=
ENST00000477152.6:c.3148_3152delinsAGAGG	ENSP00000419988.2:p.Arg1050=
ENST00000478531.6:c.785-1273_785-1269delinsAGAGG	ENSP00000420412.2:n.785-1273_785-1269delinsAGAGG
ENST00000489037.2:c.3148_3152delinsAGAGG	ENSP00000420781.2:p.Arg1050=
ENST00000493919.6:c.647-1273_647-1269delinsAGAGG	ENSP00000418819.2:n.647-1273_647-1269delinsAGAGG
ENST00000494123.6:c.3226_3230delinsAGAGG	ENSP00000419103.2:p.Arg1076=
ENST00000497488.2:c.2338_2342delinsAGAGG	ENSP00000418986.2:p.Arg780=
ENST00000618469.2:c.3226_3230delinsAGAGG	ENSP00000478114.2:p.Arg1076=
ENST00000634433.2:c.3103_3107delinsAGAGG	ENSP00000489431.2:p.Arg1035=
ENST00000644379.2:c.3226_3230delinsAGAGG	ENSP00000496570.2:p.Arg1076=
ENST00000644555.2:c.647-1273_647-1269delinsAGAGG	ENSP00000494614.2:n.647-1273_647-1269delinsAGAGG
ENST00000652672.2:c.3085_3089delinsAGAGG	ENSP00000498906.2:p.Arg1029=
ENST00000484087.6:c.665-1273_665-1269delinsAGAGG	ENSP00000419481.2:n.665-1273_665-1269delinsAGAGG
ENST00000700182.1:c.707-1273_707-1269delinsAGAGG	ENSP00000514849.1:n.707-1273_707-1269delinsAGAGG
ENST00000357654.9:c.3226_3230delinsAGAGG MANE Select	ENSP00000350283.3:p.Arg1076=
ENST00000471181.7:c.3226_3230delinsAGAGG	ENSP00000418960.2:p.Arg1076=
ENST00000352993.7:c.671-1273_671-1269delinsAGAGG	ENSP00000312236.5:n.671-1273_671-1269delinsAGAGG
ENST00000354071.7:c.3226_3230delinsAGAGG	ENSP00000326002.7:p.Arg1076=
ENST00000357654.7:c.3226_3230delinsAGAGG	ENSP00000350283.3:p.Arg1076=
ENST00000461221.5:c.3009_3013delinsAGAGG	ENSP00000418548.1:n.3009_3013delinsAGAGG
ENST00000468300.5:c.788-1273_788-1269delinsAGAGG	ENSP00000417148.1:n.788-1273_788-1269delinsAGAGG
ENST00000471181.6:c.3226_3230delinsAGAGG	ENSP00000418960.2:p.Arg1076=
ENST00000478531.5:c.785-1273_785-1269delinsAGAGG	ENSP00000420412.1:n.785-1273_785-1269delinsAGAGG
ENST00000484087.5:c.410-1273_410-1269delinsAGAGG	ENSP00000419481.1:n.410-1273_410-1269delinsAGAGG
ENST00000487825.5:c.413-1273_413-1269delinsAGAGG	ENSP00000418212.1:n.413-1273_413-1269delinsAGAGG
ENST00000491747.6:c.788-1273_788-1269delinsAGAGG	ENSP00000420705.2:n.788-1273_788-1269delinsAGAGG
ENST00000493795.5:c.3085_3089delinsAGAGG	ENSP00000418775.1:p.Arg1029=
ENST00000493919.5:c.647-1273_647-1269delinsAGAGG	ENSP00000418819.1:n.647-1273_647-1269delinsAGAGG
ENST00000586385.5:c.5-28354_5-28350delinsAGAGG	ENSP00000465818.1:n.5-28354_5-28350delinsAGAGG
ENST00000591534.5:c.-43-17784_-43-17780delinsAGAGG	ENSP00000467329.1:n.-43-17784_-43-17780delinsAGAGG
ENST00000591849.5:c.-99+32966_-99+32970delinsAGAGG	ENSP00000465347.1:n.-99+32966_-99+32970delinsAGAGG
NM_007294.3:c.3226_3230delinsAGAGG , LRG_292t1:c.3226_3230delinsAGAGG	NP_009225.1:p.Arg1076=
NM_007297.3:c.3085_3089delinsAGAGG	NP_009228.2:p.Arg1029=
NM_007298.3:c.788-1273_788-1269delinsAGAGG	NP_009229.2:n.788-1273_788-1269delinsAGAGG
NM_007299.3:c.788-1273_788-1269delinsAGAGG	NP_009230.2:n.788-1273_788-1269delinsAGAGG
NM_007300.3:c.3226_3230delinsAGAGG	NP_009231.2:p.Arg1076=
NR_027676.1:n.3362_3366delinsAGAGG
NM_007294.4:c.3226_3230delinsAGAGG MANE Select	NP_009225.1:p.Arg1076=
NM_007297.4:c.3085_3089delinsAGAGG	NP_009228.2:p.Arg1029=
NM_007299.4:c.788-1273_788-1269delinsAGAGG	NP_009230.2:n.788-1273_788-1269delinsAGAGG
NM_007300.4:c.3226_3230delinsAGAGG	NP_009231.2:p.Arg1076=
NR_027676.2:n.3403_3407delinsAGAGG