Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958006_87958008del , CM000672.2:g.87958006_87958008del	GRCh38
NC_000010.10:g.89717763_89717765del , CM000672.1:g.89717763_89717765del	GRCh37
NC_000010.9:g.89707743_89707745del	NCBI36
NG_007466.2:g.99568_99570del , LRG_311:g.99568_99570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.788_790del	ENSP00000514759.2:p.Lys263del
ENST00000710265.1:c.788_790del	ENSP00000518161.1:p.Lys263del
ENST00000472832.3:c.788_790del	ENSP00000483066.2:p.Lys263del
ENST00000688158.2:n.1523_1525del
ENST00000688922.2:c.618_620del	ENSP00000508742.2:n.618_620del
ENST00000700021.1:c.743_745del	ENSP00000514757.1:p.Lys248del
ENST00000700022.1:c.127_129del	ENSP00000514758.1:n.127_129del
ENST00000700023.1:n.1946_1948del
ENST00000700024.1:n.2180_2182del
ENST00000700025.1:n.1557_1559del
ENST00000700026.1:n.425_427del
ENST00000700029.1:c.622_624del
ENST00000706954.1:c.788_790del	ENSP00000516674.1:p.Lys263del
ENST00000706955.1:c.823_825del	ENSP00000516675.1:n.823_825del
ENST00000686459.1:c.374_376del	ENSP00000508909.1:n.374_376del
ENST00000688158.1:c.899_901del	ENSP00000509254.1:n.899_901del
ENST00000688308.1:c.788_790del	ENSP00000508752.1:p.Lys263del
ENST00000688922.1:c.709_711del
ENST00000693560.1:c.1307_1309del	ENSP00000509861.1:p.Lys436del
ENST00000371953.8:c.788_790del MANE Select	ENSP00000361021.3:p.Lys263del
ENST00000371953.7:c.788_790del	ENSP00000361021.3:p.Lys263del
ENST00000472832.2:c.215_217del	ENSP00000483066.1:p.Lys72del
NM_000314.5:c.788_790del	NP_000305.3:p.Lys263del
NM_000314.6:c.788_790del	NP_000305.3:p.Lys263del
NM_001304717.2:c.1307_1309del	NP_001291646.2:p.Lys436del
NM_001304718.1:c.197_199del	NP_001291647.1:p.Lys66del
XM_006717926.2:c.743_745del	XP_006717989.1:p.Lys248del
XM_011539981.1:c.788_790del	XP_011538283.1:p.Lys263del
XM_011539982.1:c.692_694del	XP_011538284.1:p.Lys231del
XR_945791.1:n.1358_1360del
NM_000314.7:c.788_790del	NP_000305.3:p.Lys263del
NM_001304717.5:c.1307_1309del	NP_001291646.4:p.Lys436del
NM_001304718.2:c.197_199del	NP_001291647.1:p.Lys66del
NM_000314.8:c.788_790del MANE Select	NP_000305.3:p.Lys263del