Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965469_87965470del , CM000672.2:g.87965469_87965470del	GRCh38
NC_000010.10:g.89725226_89725227del , CM000672.1:g.89725226_89725227del	GRCh37
NC_000010.9:g.89715206_89715207del	NCBI36
NG_007466.2:g.107031_107032del , LRG_311:g.107031_107032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1302_1303del	ENSP00000514759.2:p.Ter435AsnextTer17
ENST00000710265.1:c.238_239del	ENSP00000518161.1:n.238_239del
ENST00000688158.2:n.1944_1945del
ENST00000688922.2:c.1039_1040del	ENSP00000508742.2:n.1039_1040del
ENST00000700021.1:c.1164_1165del	ENSP00000514757.1:p.Ter389AsnextTer17
ENST00000700022.1:c.548_549del	ENSP00000514758.1:n.548_549del
ENST00000700023.1:n.2367_2368del
ENST00000700024.1:n.2601_2602del
ENST00000706954.1:c.1209_1210del	ENSP00000516674.1:p.Ter404AsnextTer17
ENST00000706955.1:c.1244_1245del	ENSP00000516675.1:n.1244_1245del
ENST00000686459.1:c.795_796del	ENSP00000508909.1:n.795_796del
ENST00000688158.1:c.1320_1321del	ENSP00000509254.1:n.1320_1321del
ENST00000688308.1:c.1209_1210del	ENSP00000508752.1:p.Ter404AsnextTer17
ENST00000688922.1:c.1130_1131del
ENST00000693560.1:c.1728_1729del	ENSP00000509861.1:p.Ter577AsnextTer17
ENST00000371953.8:c.1209_1210del MANE Select	ENSP00000361021.3:p.Ter404AsnextTer17
ENST00000371953.7:c.1209_1210del	ENSP00000361021.3:p.Ter404AsnextTer17
NM_000314.5:c.1209_1210del	NP_000305.3:p.Ter404AsnextTer17
NM_000314.6:c.1209_1210del	NP_000305.3:p.Ter404AsnextTer17
NM_001304717.2:c.1728_1729del	NP_001291646.2:p.Ter577AsnextTer17
NM_001304718.1:c.618_619del	NP_001291647.1:p.Ter207AsnextTer17
XM_006717926.2:c.1164_1165del	XP_006717989.1:p.Ter389AsnextTer17
XM_011539982.1:c.1113_1114del	XP_011538284.1:p.Ter372AsnextTer17
XR_945791.1:n.1779_1780del
NM_000314.7:c.1209_1210del	NP_000305.3:p.Ter404AsnextTer17
NM_001304717.5:c.1728_1729del	NP_001291646.4:p.Ter577AsnextTer17
NM_001304718.2:c.618_619del	NP_001291647.1:p.Ter207AsnextTer17
NM_000314.8:c.1209_1210del MANE Select	NP_000305.3:p.Ter404AsnextTer17