Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758109_101758110dup , CM000665.2:g.101758109_101758110dup	GRCh38
NC_000003.11:g.101476953_101476954dup , CM000665.1:g.101476953_101476954dup	GRCh37
NC_000003.10:g.102959643_102959644dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.1138_1139dup	ENSP00000419009.1:n.1138_1139dup
ENST00000467655.2:c.590_591dup	ENSP00000418547.2:n.590_591dup
ENST00000704365.1:c.1503_1504dup	ENSP00000515873.1:p.Thr502IlefsTer15
ENST00000704366.1:c.1401_1402dup	ENSP00000515874.1:p.Thr468IlefsTer15
ENST00000704367.1:c.1224_1225dup	ENSP00000515875.1:p.Thr409IlefsTer15
ENST00000704368.1:n.1996_1997dup
ENST00000704369.1:c.1017_1018dup	ENSP00000515876.1:p.Thr340IlefsTer15
ENST00000704370.1:c.1497_1498dup	ENSP00000515877.1:p.Thr500IlefsTer15
ENST00000704372.1:n.1857_1858dup
ENST00000704444.1:c.1287_1288dup	ENSP00000515896.1:p.Thr430IlefsTer15
ENST00000704445.1:c.1155_1156dup	ENSP00000515897.1:p.Thr386IlefsTer15
ENST00000704446.1:c.1048+913_1048+914dup	ENSP00000515898.1:n.1048+913_1048+914dup
ENST00000341893.8:c.1503_1504dup MANE Select	ENSP00000342510.3:p.Thr502IlefsTer15
ENST00000341893.7:c.1503_1504dup	ENSP00000342510.3:p.Thr502IlefsTer15
ENST00000467655.1:c.1118_1119dup	ENSP00000418547.1:n.1118_1119dup
ENST00000489172.5:n.1485_1486dup
ENST00000494050.5:c.1326_1327dup	ENSP00000418185.1:p.Thr443IlefsTer15
NM_001303401.1:c.1326_1327dup	NP_001290330.1:p.Thr443IlefsTer15
NM_024548.3:c.1503_1504dup	NP_078824.2:p.Thr502IlefsTer15
XM_006713743.2:c.1401_1402dup	XP_006713806.1:p.Thr468IlefsTer15
XM_011513125.1:c.1287_1288dup	XP_011511427.1:p.Thr430IlefsTer15
XM_011513126.1:c.1287_1288dup	XP_011511428.1:p.Thr430IlefsTer15
XM_011513127.1:c.1155_1156dup	XP_011511429.1:p.Thr386IlefsTer15
XM_006713743.4:c.1401_1402dup	XP_006713806.1:p.Thr468IlefsTer15
XM_017007178.2:c.1224_1225dup	XP_016862667.1:p.Thr409IlefsTer15
NM_024548.4:c.1503_1504dup MANE Select	NP_078824.2:p.Thr502IlefsTer15
NM_001303401.2:c.1326_1327dup	NP_001290330.1:p.Thr443IlefsTer15