Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260638_35260639insTAAAATGCTCGCAAGCAATGGCTTAAAGTGGGATATATACCCTTTCACAGAACTATGGCAAGGTACACTGAATGAAGCACTCGACACCTCTTTCACTATCAAAGCAGATGGTGATTATCTGAT , CM000673.2:g.35260638_35260639insTAAAATGCTCGCAAGCAATGGCTTAAAGTGGGATATATACCCTTTCACAGAACTATGGCAAGGTACACTGAATGAAGCACTCGACACCTCTTTCACTATCAAAGCAGATGGTGATTATCTGAT	GRCh38
NC_000011.9:g.35282185_35282186insTAAAATGCTCGCAAGCAATGGCTTAAAGTGGGATATATACCCTTTCACAGAACTATGGCAAGGTACACTGAATGAAGCACTCGACACCTCTTTCACTATCAAAGCAGATGGTGATTATCTGAT , CM000673.1:g.35282185_35282186insTAAAATGCTCGCAAGCAATGGCTTAAAGTGGGATATATACCCTTTCACAGAACTATGGCAAGGTACACTGAATGAAGCACTCGACACCTCTTTCACTATCAAAGCAGATGGTGATTATCTGAT	GRCh37
NC_000011.8:g.35238761_35238762insTAAAATGCTCGCAAGCAATGGCTTAAAGTGGGATATATACCCTTTCACAGAACTATGGCAAGGTACACTGAATGAAGCACTCGACACCTCTTTCACTATCAAAGCAGATGGTGATTATCTGAT	NCBI36
NG_008727.1:g.163920_163921insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA
NG_008727.2:g.163920_163921insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA MANE Select	ENSP00000278379.3:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000395750.6:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000379099.2:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000395753.6:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000379102.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000479543.2:n.1532_1533insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA
ENST00000642171.1:c.362_363insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000495538.1:n.362_363insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000642448.1:n.2072_2073insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA
ENST00000642769.1:c.1041+205_1041+206insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA
ENST00000643000.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000495164.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000643522.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000496375.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000644050.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000496123.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000644299.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000494669.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000644459.1:c.472_473insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000495861.1:n.472_473insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000644779.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000494258.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000645194.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000496093.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000645303.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000496667.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000645634.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000493945.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000647076.1:c.516+205_516+206insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA
ENST00000278379.7:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000278379.3:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000395750.5:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000379099.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000395753.5:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000379102.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGT...
ENST00000464522.2:c.219+4888_219+4889insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	ENSP00000435406.1:n.219+4888_219+4889insATCAGATAATCACCATCTGCT...
NM_001195728.2:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	NP_001182657.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
NM_001252652.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	NP_001239581.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
NM_004171.3:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	NP_004162.2:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGA...
XM_005253067.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_005253124.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_011520284.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_011518586.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_011520285.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_011518587.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_011520286.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_011518588.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_011520287.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_011518589.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_011520285.2:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_011518587.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_017018136.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_016873625.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_017018137.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_016873626.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_017018138.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_016873627.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
XM_017018139.1:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	XP_016873628.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
NM_004171.4:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA MANE Select	NP_004162.2:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGA...
NM_001195728.3:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	NP_001182657.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...
NM_001252652.2:c.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAAAGAGGTGTCGAGTGCTTCATTCAGTGTACCTTGCCATAGTTCTGTGAAAGGGTATATATCCCACTTTAAGCCATTGCTTGCGAGCATTTTA	NP_001239581.1:n.255_256insATCAGATAATCACCATCTGCTTTGATAGTGAA...