Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145172_44145184delinsCGCCGAGACCAGG , CM000669.2:g.44145172_44145184delinsCGCCGAGACCAGG	GRCh38
NC_000007.13:g.44184771_44184783delinsCGCCGAGACCAGG , CM000669.1:g.44184771_44184783delinsCGCCGAGACCAGG	GRCh37
NC_000007.12:g.44151296_44151308delinsCGCCGAGACCAGG	NCBI36
NG_008847.1:g.49240_49252delinsCCTGGTCTCGGCG
NG_008847.2:g.57987_57999delinsCCTGGTCTCGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1348_1360delinsCCTGGTCTCGGCG	ENSP00000379142.4:n.1348_1360delinsCCTGGTCTCGGCG
ENST00000616242.5:c.470_482delinsCCTGGTCTCGGCG	ENSP00000482149.2:n.470_482delinsCCTGGTCTCGGCG
ENST00000683378.1:n.576_588delinsCCTGGTCTCGGCG
ENST00000336642.9:c.384_396delinsCCTGGTCTCGGCG	ENSP00000338009.5:p.Ala128=
ENST00000345378.7:c.1353_1365delinsCCTGGTCTCGGCG	ENSP00000223366.2:p.Ala451=
ENST00000403799.8:c.1350_1362delinsCCTGGTCTCGGCG MANE Select	ENSP00000384247.3:p.Ala450=
ENST00000671824.1:c.1413_1425delinsCCTGGTCTCGGCG	ENSP00000500264.1:p.Ala471=
ENST00000672743.1:n.362_374delinsCCTGGTCTCGGCG
ENST00000673284.1:c.1350_1362delinsCCTGGTCTCGGCG	ENSP00000499852.1:p.Ala450=
ENST00000336642.8:c.402_414delinsCCTGGTCTCGGCG	ENSP00000338009.4:p.Ala134=
ENST00000345378.6:c.1353_1365delinsCCTGGTCTCGGCG	ENSP00000223366.2:p.Ala451=
ENST00000395796.7:c.1347_1359delinsCCTGGTCTCGGCG	ENSP00000379142.3:p.Ala449=
ENST00000403799.7:c.1350_1362delinsCCTGGTCTCGGCG	ENSP00000384247.3:p.Ala450=
ENST00000437084.1:c.1299_1311delinsCCTGGTCTCGGCG	ENSP00000402840.1:p.Ala433=
ENST00000459642.1:n.730_742delinsCCTGGTCTCGGCG
ENST00000616242.4:c.1347_1359delinsCCTGGTCTCGGCG	ENSP00000482149.1:p.Ala449=
NM_000162.3:c.1350_1362delinsCCTGGTCTCGGCG	NP_000153.1:p.Ala450=
NM_033507.1:c.1353_1365delinsCCTGGTCTCGGCG	NP_277042.1:p.Ala451=
NM_033508.1:c.1347_1359delinsCCTGGTCTCGGCG	NP_277043.1:p.Ala449=
NM_000162.4:c.1350_1362delinsCCTGGTCTCGGCG	NP_000153.1:p.Ala450=
NM_001354800.1:c.1350_1362delinsCCTGGTCTCGGCG	NP_001341729.1:p.Ala450=
NM_001354801.1:c.339_351delinsCCTGGTCTCGGCG	NP_001341730.1:p.Ala113=
NM_001354802.1:c.210_222delinsCCTGGTCTCGGCG	NP_001341731.1:p.Ala70=
NM_001354803.1:c.384_396delinsCCTGGTCTCGGCG	NP_001341732.1:p.Ala128=
NM_033507.2:c.1353_1365delinsCCTGGTCTCGGCG	NP_277042.1:p.Ala451=
NM_033508.2:c.1347_1359delinsCCTGGTCTCGGCG	NP_277043.1:p.Ala449=
XM_024446707.1:c.210_222delinsCCTGGTCTCGGCG	XP_024302475.1:p.Ala70=
NM_000162.5:c.1350_1362delinsCCTGGTCTCGGCG MANE Select	NP_000153.1:p.Ala450=
NM_033507.3:c.1353_1365delinsCCTGGTCTCGGCG	NP_277042.1:p.Ala451=
NM_033508.3:c.1347_1359delinsCCTGGTCTCGGCG	NP_277043.1:p.Ala449=
NM_001354803.2:c.384_396delinsCCTGGTCTCGGCG	NP_001341732.1:p.Ala128=