Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092464_43092465delinsCT , CM000679.2:g.43092464_43092465delinsCT	GRCh38
NC_000017.10:g.41244481_41244482delinsCT , CM000679.1:g.41244481_41244482delinsCT	GRCh37
NC_000017.9:g.38498007_38498008delinsCT	NCBI36
NG_005905.2:g.125519_125520delinsAG , LRG_292:g.125519_125520delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3130_3131delinsAG
ENST00000461574.2:c.3066_3067delinsAG	ENSP00000417241.2:p.Thr1022=
ENST00000470026.6:c.3066_3067delinsAG	ENSP00000419274.2:p.Thr1022=
ENST00000473961.6:c.2940_2941delinsAG	ENSP00000420201.2:p.Thr980=
ENST00000476777.6:c.3063_3064delinsAG	ENSP00000417554.2:p.Thr1021=
ENST00000477152.6:c.2988_2989delinsAG	ENSP00000419988.2:p.Thr996=
ENST00000478531.6:c.785-1433_785-1432delinsAG	ENSP00000420412.2:n.785-1433_785-1432delinsAG
ENST00000489037.2:c.2988_2989delinsAG	ENSP00000420781.2:p.Thr996=
ENST00000493919.6:c.647-1433_647-1432delinsAG	ENSP00000418819.2:n.647-1433_647-1432delinsAG
ENST00000494123.6:c.3066_3067delinsAG	ENSP00000419103.2:p.Thr1022=
ENST00000497488.2:c.2178_2179delinsAG	ENSP00000418986.2:p.Thr726=
ENST00000618469.2:c.3066_3067delinsAG	ENSP00000478114.2:p.Thr1022=
ENST00000634433.2:c.2943_2944delinsAG	ENSP00000489431.2:p.Thr981=
ENST00000644379.2:c.3066_3067delinsAG	ENSP00000496570.2:p.Thr1022=
ENST00000644555.2:c.647-1433_647-1432delinsAG	ENSP00000494614.2:n.647-1433_647-1432delinsAG
ENST00000652672.2:c.2925_2926delinsAG	ENSP00000498906.2:p.Thr975=
ENST00000484087.6:c.665-1433_665-1432delinsAG	ENSP00000419481.2:n.665-1433_665-1432delinsAG
ENST00000700182.1:c.707-1433_707-1432delinsAG	ENSP00000514849.1:n.707-1433_707-1432delinsAG
ENST00000357654.9:c.3066_3067delinsAG MANE Select	ENSP00000350283.3:p.Thr1022=
ENST00000471181.7:c.3066_3067delinsAG	ENSP00000418960.2:p.Thr1022=
ENST00000352993.7:c.671-1433_671-1432delinsAG	ENSP00000312236.5:n.671-1433_671-1432delinsAG
ENST00000354071.7:c.3066_3067delinsAG	ENSP00000326002.7:p.Thr1022=
ENST00000357654.7:c.3066_3067delinsAG	ENSP00000350283.3:p.Thr1022=
ENST00000461221.5:c.2849_2850delinsAG	ENSP00000418548.1:n.2849_2850delinsAG
ENST00000468300.5:c.788-1433_788-1432delinsAG	ENSP00000417148.1:n.788-1433_788-1432delinsAG
ENST00000471181.6:c.3066_3067delinsAG	ENSP00000418960.2:p.Thr1022=
ENST00000478531.5:c.785-1433_785-1432delinsAG	ENSP00000420412.1:n.785-1433_785-1432delinsAG
ENST00000484087.5:c.410-1433_410-1432delinsAG	ENSP00000419481.1:n.410-1433_410-1432delinsAG
ENST00000487825.5:c.413-1433_413-1432delinsAG	ENSP00000418212.1:n.413-1433_413-1432delinsAG
ENST00000491747.6:c.788-1433_788-1432delinsAG	ENSP00000420705.2:n.788-1433_788-1432delinsAG
ENST00000493795.5:c.2925_2926delinsAG	ENSP00000418775.1:p.Thr975=
ENST00000493919.5:c.647-1433_647-1432delinsAG	ENSP00000418819.1:n.647-1433_647-1432delinsAG
ENST00000586385.5:c.5-28514_5-28513delinsAG	ENSP00000465818.1:n.5-28514_5-28513delinsAG
ENST00000591534.5:c.-43-17944_-43-17943delinsAG	ENSP00000467329.1:n.-43-17944_-43-17943delinsAG
ENST00000591849.5:c.-99+32806_-99+32807delinsAG	ENSP00000465347.1:n.-99+32806_-99+32807delinsAG
NM_007294.3:c.3066_3067delinsAG , LRG_292t1:c.3066_3067delinsAG	NP_009225.1:p.Thr1022=
NM_007297.3:c.2925_2926delinsAG	NP_009228.2:p.Thr975=
NM_007298.3:c.788-1433_788-1432delinsAG	NP_009229.2:n.788-1433_788-1432delinsAG
NM_007299.3:c.788-1433_788-1432delinsAG	NP_009230.2:n.788-1433_788-1432delinsAG
NM_007300.3:c.3066_3067delinsAG	NP_009231.2:p.Thr1022=
NR_027676.1:n.3202_3203delinsAG
NM_007294.4:c.3066_3067delinsAG MANE Select	NP_009225.1:p.Thr1022=
NM_007297.4:c.2925_2926delinsAG	NP_009228.2:p.Thr975=
NM_007299.4:c.788-1433_788-1432delinsAG	NP_009230.2:n.788-1433_788-1432delinsAG
NM_007300.4:c.3066_3067delinsAG	NP_009231.2:p.Thr1022=
NR_027676.2:n.3243_3244delinsAG