Allele Registry

HGVS	Genome Assembly
NC_000015.10:g.48474602_48474603insGTATTTCTTTTGCTAGTATTTTTAGTAAGTCAACTATGGAGTAATGATGCACATTATTTTCATATCTTGTATAGA , CM000677.2:g.48474602_48474603insGTATTTCTTTTGCTAGTATTTTTAGTAAGTCAACTATGGAGTAATGATGCACATTATTTTCATATCTTGTATAGA	GRCh38
NC_000015.9:g.48766799_48766800insGTATTTCTTTTGCTAGTATTTTTAGTAAGTCAACTATGGAGTAATGATGCACATTATTTTCATATCTTGTATAGA , CM000677.1:g.48766799_48766800insGTATTTCTTTTGCTAGTATTTTTAGTAAGTCAACTATGGAGTAATGATGCACATTATTTTCATATCTTGTATAGA	GRCh37
NC_000015.8:g.46554091_46554092insGTATTTCTTTTGCTAGTATTTTTAGTAAGTCAACTATGGAGTAATGATGCACATTATTTTCATATCTTGTATAGA	NCBI36
NG_008805.2:g.176187_176188insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT , LRG_778:g.176187_176188insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT

HGVS	Amino-acid Change
ENST00000559133.6:c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT	ENSP00000453958.2:p.Val1338_Cys1339insTyrThrArgTyrGluAsnAsnVa...
ENST00000674301.2:c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT	ENSP00000501333.2:p.Val1338_Cys1339insTyrThrArgTyrGluAsnAsnVa...
ENST00000684448.1:n.2687_2688insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT
ENST00000316623.10:c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT MANE Select	ENSP00000325527.5:p.Val1338_Cys1339insTyrThrArgTyrGluAsnAsnVa...
ENST00000316623.9:c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT	ENSP00000325527.5:p.Val1338_Cys1339insTyrThrArgTyrGluAsnAsnVa...
ENST00000537463.6:c.685_686insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT	ENSP00000440294.2:p.Tyr229SerfsTer14
NM_000138.4:c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT , LRG_778t1:c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT	NP_000129.3:p.Val1338_Cys1339insTyrThrArgTyrGluAsnAsnValHisHi...
NM_000138.5:c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT MANE Select	NP_000129.3:p.Val1338_Cys1339insTyrThrArgTyrGluAsnAsnValHisHi...