Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092273_43092274delinsTA , CM000679.2:g.43092273_43092274delinsTA	GRCh38
NC_000017.10:g.41244290_41244291delinsTA , CM000679.1:g.41244290_41244291delinsTA	GRCh37
NC_000017.9:g.38497816_38497817delinsTA	NCBI36
NG_005905.2:g.125710_125711delinsTA , LRG_292:g.125710_125711delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3321_3322delinsTA
ENST00000461574.2:c.3257_3258delinsTA	ENSP00000417241.2:p.Leu1086=
ENST00000470026.6:c.3257_3258delinsTA	ENSP00000419274.2:p.Leu1086=
ENST00000473961.6:c.3131_3132delinsTA	ENSP00000420201.2:p.Leu1044=
ENST00000476777.6:c.3254_3255delinsTA	ENSP00000417554.2:p.Leu1085=
ENST00000477152.6:c.3179_3180delinsTA	ENSP00000419988.2:p.Leu1060=
ENST00000478531.6:c.785-1242_785-1241delinsTA	ENSP00000420412.2:n.785-1242_785-1241delinsTA
ENST00000489037.2:c.3179_3180delinsTA	ENSP00000420781.2:p.Leu1060=
ENST00000493919.6:c.647-1242_647-1241delinsTA	ENSP00000418819.2:n.647-1242_647-1241delinsTA
ENST00000494123.6:c.3257_3258delinsTA	ENSP00000419103.2:p.Leu1086=
ENST00000497488.2:c.2369_2370delinsTA	ENSP00000418986.2:p.Leu790=
ENST00000618469.2:c.3257_3258delinsTA	ENSP00000478114.2:p.Leu1086=
ENST00000634433.2:c.3134_3135delinsTA	ENSP00000489431.2:p.Leu1045=
ENST00000644379.2:c.3257_3258delinsTA	ENSP00000496570.2:p.Leu1086=
ENST00000644555.2:c.647-1242_647-1241delinsTA	ENSP00000494614.2:n.647-1242_647-1241delinsTA
ENST00000652672.2:c.3116_3117delinsTA	ENSP00000498906.2:p.Leu1039=
ENST00000484087.6:c.665-1242_665-1241delinsTA	ENSP00000419481.2:n.665-1242_665-1241delinsTA
ENST00000700182.1:c.707-1242_707-1241delinsTA	ENSP00000514849.1:n.707-1242_707-1241delinsTA
ENST00000357654.9:c.3257_3258delinsTA MANE Select	ENSP00000350283.3:p.Leu1086=
ENST00000471181.7:c.3257_3258delinsTA	ENSP00000418960.2:p.Leu1086=
ENST00000352993.7:c.671-1242_671-1241delinsTA	ENSP00000312236.5:n.671-1242_671-1241delinsTA
ENST00000354071.7:c.3257_3258delinsTA	ENSP00000326002.7:p.Leu1086=
ENST00000357654.7:c.3257_3258delinsTA	ENSP00000350283.3:p.Leu1086=
ENST00000461221.5:c.3040_3041delinsTA	ENSP00000418548.1:n.3040_3041delinsTA
ENST00000468300.5:c.788-1242_788-1241delinsTA	ENSP00000417148.1:n.788-1242_788-1241delinsTA
ENST00000471181.6:c.3257_3258delinsTA	ENSP00000418960.2:p.Leu1086=
ENST00000478531.5:c.785-1242_785-1241delinsTA	ENSP00000420412.1:n.785-1242_785-1241delinsTA
ENST00000484087.5:c.410-1242_410-1241delinsTA	ENSP00000419481.1:n.410-1242_410-1241delinsTA
ENST00000487825.5:c.413-1242_413-1241delinsTA	ENSP00000418212.1:n.413-1242_413-1241delinsTA
ENST00000491747.6:c.788-1242_788-1241delinsTA	ENSP00000420705.2:n.788-1242_788-1241delinsTA
ENST00000493795.5:c.3116_3117delinsTA	ENSP00000418775.1:p.Leu1039=
ENST00000493919.5:c.647-1242_647-1241delinsTA	ENSP00000418819.1:n.647-1242_647-1241delinsTA
ENST00000586385.5:c.5-28323_5-28322delinsTA	ENSP00000465818.1:n.5-28323_5-28322delinsTA
ENST00000591534.5:c.-43-17753_-43-17752delinsTA	ENSP00000467329.1:n.-43-17753_-43-17752delinsTA
ENST00000591849.5:c.-99+32997_-99+32998delinsTA	ENSP00000465347.1:n.-99+32997_-99+32998delinsTA
NM_007294.3:c.3257_3258delinsTA , LRG_292t1:c.3257_3258delinsTA	NP_009225.1:p.Leu1086=
NM_007297.3:c.3116_3117delinsTA	NP_009228.2:p.Leu1039=
NM_007298.3:c.788-1242_788-1241delinsTA	NP_009229.2:n.788-1242_788-1241delinsTA
NM_007299.3:c.788-1242_788-1241delinsTA	NP_009230.2:n.788-1242_788-1241delinsTA
NM_007300.3:c.3257_3258delinsTA	NP_009231.2:p.Leu1086=
NR_027676.1:n.3393_3394delinsTA
NM_007294.4:c.3257_3258delinsTA MANE Select	NP_009225.1:p.Leu1086=
NM_007297.4:c.3116_3117delinsTA	NP_009228.2:p.Leu1039=
NM_007299.4:c.788-1242_788-1241delinsTA	NP_009230.2:n.788-1242_788-1241delinsTA
NM_007300.4:c.3257_3258delinsTA	NP_009231.2:p.Leu1086=
NR_027676.2:n.3434_3435delinsTA