Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145190_44145191dup , CM000669.2:g.44145190_44145191dup	GRCh38
NC_000007.13:g.44184789_44184790dup , CM000669.1:g.44184789_44184790dup	GRCh37
NC_000007.12:g.44151314_44151315dup	NCBI36
NG_008847.1:g.49236_49237dup
NG_008847.2:g.57983_57984dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1344_1345dup	ENSP00000379142.4:n.1344_1345dup
ENST00000616242.5:c.466_467dup	ENSP00000482149.2:n.466_467dup
ENST00000683378.1:n.572_573dup
ENST00000336642.9:c.380_381dup	ENSP00000338009.5:p.Ala128ArgfsTer?
ENST00000345378.7:c.1349_1350dup	ENSP00000223366.2:p.Ala451ArgfsTer?
ENST00000403799.8:c.1346_1347dup MANE Select	ENSP00000384247.3:p.Ala450ArgfsTer?
ENST00000671824.1:c.1409_1410dup	ENSP00000500264.1:p.Ala471ArgfsTer?
ENST00000672743.1:n.358_359dup
ENST00000673284.1:c.1346_1347dup	ENSP00000499852.1:p.Ala450ArgfsTer15
ENST00000336642.8:c.398_399dup	ENSP00000338009.4:p.Ala134ArgfsTer?
ENST00000345378.6:c.1349_1350dup	ENSP00000223366.2:p.Ala451ArgfsTer?
ENST00000395796.7:c.1343_1344dup	ENSP00000379142.3:p.Ala449ArgfsTer?
ENST00000403799.7:c.1346_1347dup	ENSP00000384247.3:p.Ala450ArgfsTer?
ENST00000437084.1:c.1295_1296dup	ENSP00000402840.1:p.Ala433ArgfsTer?
ENST00000459642.1:n.726_727dup
ENST00000616242.4:c.1343_1344dup	ENSP00000482149.1:p.Ala449ArgfsTer?
NM_000162.3:c.1346_1347dup	NP_000153.1:p.Ala450ArgfsTer?
NM_033507.1:c.1349_1350dup	NP_277042.1:p.Ala451ArgfsTer?
NM_033508.1:c.1343_1344dup	NP_277043.1:p.Ala449ArgfsTer?
NM_000162.4:c.1346_1347dup	NP_000153.1:p.Ala450ArgfsTer?
NM_001354800.1:c.1346_1347dup	NP_001341729.1:p.Ala450ArgfsTer15
NM_001354801.1:c.335_336dup	NP_001341730.1:p.Ala113ArgfsTer?
NM_001354802.1:c.206_207dup	NP_001341731.1:p.Ala70ArgfsTer15
NM_001354803.1:c.380_381dup	NP_001341732.1:p.Ala128ArgfsTer?
NM_033507.2:c.1349_1350dup	NP_277042.1:p.Ala451ArgfsTer?
NM_033508.2:c.1343_1344dup	NP_277043.1:p.Ala449ArgfsTer?
XM_024446707.1:c.206_207dup	XP_024302475.1:p.Ala70ArgfsTer?
NM_000162.5:c.1346_1347dup MANE Select	NP_000153.1:p.Ala450ArgfsTer?
NM_033507.3:c.1349_1350dup	NP_277042.1:p.Ala451ArgfsTer?
NM_033508.3:c.1343_1344dup	NP_277043.1:p.Ala449ArgfsTer?
NM_001354803.2:c.380_381dup	NP_001341732.1:p.Ala128ArgfsTer?