Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958004_87958006del , CM000672.2:g.87958004_87958006del	GRCh38
NC_000010.10:g.89717761_89717763del , CM000672.1:g.89717761_89717763del	GRCh37
NC_000010.9:g.89707741_89707743del	NCBI36
NG_007466.2:g.99566_99568del , LRG_311:g.99566_99568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.786_788del	ENSP00000514759.2:p.Asn262del
ENST00000710265.1:c.786_788del	ENSP00000518161.1:p.Asn262del
ENST00000472832.3:c.786_788del	ENSP00000483066.2:p.Asn262del
ENST00000688158.2:n.1521_1523del
ENST00000688922.2:c.616_618del	ENSP00000508742.2:n.616_618del
ENST00000700021.1:c.741_743del	ENSP00000514757.1:p.Asn247del
ENST00000700022.1:c.125_127del	ENSP00000514758.1:n.125_127del
ENST00000700023.1:n.1944_1946del
ENST00000700024.1:n.2178_2180del
ENST00000700025.1:n.1555_1557del
ENST00000700026.1:n.423_425del
ENST00000700029.1:c.620_622del
ENST00000706954.1:c.786_788del	ENSP00000516674.1:p.Asn262del
ENST00000706955.1:c.821_823del	ENSP00000516675.1:n.821_823del
ENST00000686459.1:c.372_374del	ENSP00000508909.1:n.372_374del
ENST00000688158.1:c.897_899del	ENSP00000509254.1:n.897_899del
ENST00000688308.1:c.786_788del	ENSP00000508752.1:p.Asn262del
ENST00000688922.1:c.707_709del
ENST00000693560.1:c.1305_1307del	ENSP00000509861.1:p.Asn435del
ENST00000371953.8:c.786_788del MANE Select	ENSP00000361021.3:p.Asn262del
ENST00000371953.7:c.786_788del	ENSP00000361021.3:p.Asn262del
ENST00000472832.2:c.213_215del	ENSP00000483066.1:p.Asn71del
NM_000314.5:c.786_788del	NP_000305.3:p.Asn262del
NM_000314.6:c.786_788del	NP_000305.3:p.Asn262del
NM_001304717.2:c.1305_1307del	NP_001291646.2:p.Asn435del
NM_001304718.1:c.195_197del	NP_001291647.1:p.Asn65del
XM_006717926.2:c.741_743del	XP_006717989.1:p.Asn247del
XM_011539981.1:c.786_788del	XP_011538283.1:p.Asn262del
XM_011539982.1:c.690_692del	XP_011538284.1:p.Asn230del
XR_945791.1:n.1356_1358del
NM_000314.7:c.786_788del	NP_000305.3:p.Asn262del
NM_001304717.5:c.1305_1307del	NP_001291646.4:p.Asn435del
NM_001304718.2:c.195_197del	NP_001291647.1:p.Asn65del
NM_000314.8:c.786_788del MANE Select	NP_000305.3:p.Asn262del