Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32614453_32614454insTTGCTTTGTTTTTCCATGCTAGCTACCCTGAGGCATTCCCATCTTGAATTTAGGAGATTCATCTGCTCTTGTACTTCAGTTTCTTCATCTT , CM000685.2:g.32614453_32614454insTTGCTTTGTTTTTCCATGCTAGCTACCCTGAGGCATTCCCATCTTGAATTTAGGAGATTCATCTGCTCTTGTACTTCAGTTTCTTCATCTT	GRCh38
NC_000023.10:g.32632570_32632571insTTGCTTTGTTTTTCCATGCTAGCTACCCTGAGGCATTCCCATCTTGAATTTAGGAGATTCATCTGCTCTTGTACTTCAGTTTCTTCATCTT , CM000685.1:g.32632570_32632571insTTGCTTTGTTTTTCCATGCTAGCTACCCTGAGGCATTCCCATCTTGAATTTAGGAGATTCATCTGCTCTTGTACTTCAGTTTCTTCATCTT	GRCh37
NC_000023.9:g.32542491_32542492insTTGCTTTGTTTTTCCATGCTAGCTACCCTGAGGCATTCCCATCTTGAATTTAGGAGATTCATCTGCTCTTGTACTTCAGTTTCTTCATCTT	NCBI36
NG_012232.1:g.730156_730157insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA , LRG_199:g.730156_730157insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA MANE Select	NP_003997.2:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGA...
ENST00000357033.9:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA MANE Select	ENSP00000354923.3:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGC...
NM_000109.3:c.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	NP_000100.2:n.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGATGA...
NM_000109.4:c.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	NP_000100.3:n.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGATGA...
NM_004006.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA , LRG_199t1:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	NP_003997.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGA...
NM_004009.3:c.1320-1_1320insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	NP_004000.1:n.1320-1_1320insAAGATGAAGAAACTGAAGTACAAGAGCAGATGA...
NM_004010.3:c.963-1_963insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	NP_004001.1:n.963-1_963insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAAT...
ENST00000288447.8:c.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000288447.4:n.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGC...
ENST00000288447.9:c.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000288447.4:n.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGC...
ENST00000357033.8:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000354923.3:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGC...
ENST00000378677.6:c.1320-1_1320insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000367948.2:n.1320-1_1320insAAGATGAAGAAACTGAAGTACAAGAGC...
ENST00000420596.5:c.94-249255_94-249254insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000399897.1:n.94-249255_94-249254insAAGATGAAGAAACTGAAGT...
ENST00000447523.1:c.247-40608_247-40607insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000395904.1:n.247-40608_247-40607insAAGATGAAGAAACTGAAGT...
ENST00000448370.5:c.94-249744_94-249743insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000388559.1:n.94-249744_94-249743insAAGATGAAGAAACTGAAGT...
ENST00000480751.1:n.87-40608_87-40607insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA
ENST00000488902.5:n.336-397391_336-397390insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA
ENST00000619831.4:c.1320-1_1320insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000479270.1:n.1320-1_1320insAAGATGAAGAAACTGAAGTACAAGAGC...
ENST00000620040.4:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000478150.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGC...
ENST00000682071.1:c.963-1_963insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000508133.1:n.963-1_963insAAGATGAAGAAACTGAAGTACAAGAGCAG...
ENST00000682899.1:n.1539-1_1539insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA
ENST00000682924.1:c.1332-18578_1332-18577insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000508187.1:n.1332-18578_1332-18577insAAGATGAAGAAACTGAA...
ENST00000683985.1:n.1539-1_1539insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA
ENST00000684165.1:n.1539-1_1539insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA
ENST00000684237.1:c.1203-1_1203insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	ENSP00000507277.1:n.1203-1_1203insAAGATGAAGAAACTGAAGTACAAGAGC...
ENST00000684292.1:n.1539-1_1539insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA
XM_006724468.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724531.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724469.2:c.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724532.1:n.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724469.3:c.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724532.1:n.1308-1_1308insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724470.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724533.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724470.3:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724533.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724471.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724534.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724472.2:c.1203-1_1203insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724535.1:n.1203-1_1203insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724473.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724536.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724474.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724537.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724474.3:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724537.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_006724475.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_006724538.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_011545467.1:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_011543769.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_011545468.1:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_011543770.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_011545468.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_011543770.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_011545469.1:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_011543771.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_017029328.1:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_016884817.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_017029329.1:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_016884818.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...
XM_017029330.2:c.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGATGGGAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAA	XP_016884819.1:n.1332-1_1332insAAGATGAAGAAACTGAAGTACAAGAGCAGA...