Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958011_87958012delinsAA , CM000672.2:g.87958011_87958012delinsAA	GRCh38
NC_000010.10:g.89717768_89717769delinsAA , CM000672.1:g.89717768_89717769delinsAA	GRCh37
NC_000010.9:g.89707748_89707749delinsAA	NCBI36
NG_007466.2:g.99573_99574delinsAA , LRG_311:g.99573_99574delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.793_794delinsAA	ENSP00000514759.2:p.Leu265Lys
ENST00000710265.1:c.793_794delinsAA	ENSP00000518161.1:p.Leu265Lys
ENST00000472832.3:c.793_794delinsAA	ENSP00000483066.2:p.Leu265Lys
ENST00000688158.2:n.1528_1529delinsAA
ENST00000688922.2:c.623_624delinsAA	ENSP00000508742.2:n.623_624delinsAA
ENST00000700021.1:c.748_749delinsAA	ENSP00000514757.1:p.Leu250Lys
ENST00000700022.1:c.132_133delinsAA	ENSP00000514758.1:n.132_133delinsAA
ENST00000700023.1:n.1951_1952delinsAA
ENST00000700024.1:n.2185_2186delinsAA
ENST00000700025.1:n.1562_1563delinsAA
ENST00000700026.1:n.430_431delinsAA
ENST00000700029.1:c.627_628delinsAA
ENST00000706954.1:c.793_794delinsAA	ENSP00000516674.1:p.Leu265Lys
ENST00000706955.1:c.828_829delinsAA	ENSP00000516675.1:n.828_829delinsAA
ENST00000686459.1:c.379_380delinsAA	ENSP00000508909.1:n.379_380delinsAA
ENST00000688158.1:c.904_905delinsAA	ENSP00000509254.1:n.904_905delinsAA
ENST00000688308.1:c.793_794delinsAA	ENSP00000508752.1:p.Leu265Lys
ENST00000688922.1:c.714_715delinsAA
ENST00000693560.1:c.1312_1313delinsAA	ENSP00000509861.1:p.Leu438Lys
ENST00000371953.8:c.793_794delinsAA MANE Select	ENSP00000361021.3:p.Leu265Lys
ENST00000371953.7:c.793_794delinsAA	ENSP00000361021.3:p.Leu265Lys
ENST00000472832.2:c.220_221delinsAA	ENSP00000483066.1:p.Leu74Lys
NM_000314.5:c.793_794delinsAA	NP_000305.3:p.Leu265Lys
NM_000314.6:c.793_794delinsAA	NP_000305.3:p.Leu265Lys
NM_001304717.2:c.1312_1313delinsAA	NP_001291646.2:p.Leu438Lys
NM_001304718.1:c.202_203delinsAA	NP_001291647.1:p.Leu68Lys
XM_006717926.2:c.748_749delinsAA	XP_006717989.1:p.Leu250Lys
XM_011539981.1:c.793_794delinsAA	XP_011538283.1:p.Leu265Lys
XM_011539982.1:c.697_698delinsAA	XP_011538284.1:p.Leu233Lys
XR_945791.1:n.1363_1364delinsAA
NM_000314.7:c.793_794delinsAA	NP_000305.3:p.Leu265Lys
NM_001304717.5:c.1312_1313delinsAA	NP_001291646.4:p.Leu438Lys
NM_001304718.2:c.202_203delinsAA	NP_001291647.1:p.Leu68Lys
NM_000314.8:c.793_794delinsAA MANE Select	NP_000305.3:p.Leu265Lys