Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957996_87957998del , CM000672.2:g.87957996_87957998del	GRCh38
NC_000010.10:g.89717753_89717755del , CM000672.1:g.89717753_89717755del	GRCh37
NC_000010.9:g.89707733_89707735del	NCBI36
NG_007466.2:g.99558_99560del , LRG_311:g.99558_99560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.778_780del	ENSP00000514759.2:p.Lys260del
ENST00000710265.1:c.778_780del	ENSP00000518161.1:p.Lys260del
ENST00000472832.3:c.778_780del	ENSP00000483066.2:p.Lys260del
ENST00000688158.2:n.1513_1515del
ENST00000688922.2:c.608_610del	ENSP00000508742.2:n.608_610del
ENST00000700021.1:c.733_735del	ENSP00000514757.1:p.Lys245del
ENST00000700022.1:c.117_119del	ENSP00000514758.1:n.117_119del
ENST00000700023.1:n.1936_1938del
ENST00000700024.1:n.2170_2172del
ENST00000700025.1:n.1547_1549del
ENST00000700026.1:n.415_417del
ENST00000700029.1:c.612_614del
ENST00000706954.1:c.778_780del	ENSP00000516674.1:p.Lys260del
ENST00000706955.1:c.813_815del	ENSP00000516675.1:n.813_815del
ENST00000686459.1:c.364_366del	ENSP00000508909.1:n.364_366del
ENST00000688158.1:c.889_891del	ENSP00000509254.1:n.889_891del
ENST00000688308.1:c.778_780del	ENSP00000508752.1:p.Lys260del
ENST00000688922.1:c.699_701del
ENST00000693560.1:c.1297_1299del	ENSP00000509861.1:p.Lys433del
ENST00000371953.8:c.778_780del MANE Select	ENSP00000361021.3:p.Lys260del
ENST00000371953.7:c.778_780del	ENSP00000361021.3:p.Lys260del
ENST00000472832.2:c.205_207del	ENSP00000483066.1:p.Lys69del
NM_000314.5:c.778_780del	NP_000305.3:p.Lys260del
NM_000314.6:c.778_780del	NP_000305.3:p.Lys260del
NM_001304717.2:c.1297_1299del	NP_001291646.2:p.Lys433del
NM_001304718.1:c.187_189del	NP_001291647.1:p.Lys63del
XM_006717926.2:c.733_735del	XP_006717989.1:p.Lys245del
XM_011539981.1:c.778_780del	XP_011538283.1:p.Lys260del
XM_011539982.1:c.682_684del	XP_011538284.1:p.Lys228del
XR_945791.1:n.1348_1350del
NM_000314.7:c.778_780del	NP_000305.3:p.Lys260del
NM_001304717.5:c.1297_1299del	NP_001291646.4:p.Lys433del
NM_001304718.2:c.187_189del	NP_001291647.1:p.Lys63del
NM_000314.8:c.778_780del MANE Select	NP_000305.3:p.Lys260del