Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957987_87957988delinsCG , CM000672.2:g.87957987_87957988delinsCG	GRCh38
NC_000010.10:g.89717744_89717745delinsCG , CM000672.1:g.89717744_89717745delinsCG	GRCh37
NC_000010.9:g.89707724_89707725delinsCG	NCBI36
NG_007466.2:g.99549_99550delinsCG , LRG_311:g.99549_99550delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.769_770delinsCG	ENSP00000514759.2:p.Phe257Arg
ENST00000710265.1:c.769_770delinsCG	ENSP00000518161.1:p.Phe257Arg
ENST00000472832.3:c.769_770delinsCG	ENSP00000483066.2:p.Phe257Arg
ENST00000688158.2:n.1504_1505delinsCG
ENST00000688922.2:c.599_600delinsCG	ENSP00000508742.2:n.599_600delinsCG
ENST00000700021.1:c.724_725delinsCG	ENSP00000514757.1:p.Phe242Arg
ENST00000700022.1:c.108_109delinsCG	ENSP00000514758.1:n.108_109delinsCG
ENST00000700023.1:n.1927_1928delinsCG
ENST00000700024.1:n.2161_2162delinsCG
ENST00000700025.1:n.1538_1539delinsCG
ENST00000700026.1:n.406_407delinsCG
ENST00000700029.1:c.603_604delinsCG
ENST00000706954.1:c.769_770delinsCG	ENSP00000516674.1:p.Phe257Arg
ENST00000706955.1:c.804_805delinsCG	ENSP00000516675.1:n.804_805delinsCG
ENST00000686459.1:c.355_356delinsCG	ENSP00000508909.1:n.355_356delinsCG
ENST00000688158.1:c.880_881delinsCG	ENSP00000509254.1:n.880_881delinsCG
ENST00000688308.1:c.769_770delinsCG	ENSP00000508752.1:p.Phe257Arg
ENST00000688922.1:c.690_691delinsCG
ENST00000693560.1:c.1288_1289delinsCG	ENSP00000509861.1:p.Phe430Arg
ENST00000371953.8:c.769_770delinsCG MANE Select	ENSP00000361021.3:p.Phe257Arg
ENST00000371953.7:c.769_770delinsCG	ENSP00000361021.3:p.Phe257Arg
ENST00000472832.2:c.196_197delinsCG	ENSP00000483066.1:p.Phe66Arg
NM_000314.5:c.769_770delinsCG	NP_000305.3:p.Phe257Arg
NM_000314.6:c.769_770delinsCG	NP_000305.3:p.Phe257Arg
NM_001304717.2:c.1288_1289delinsCG	NP_001291646.2:p.Phe430Arg
NM_001304718.1:c.178_179delinsCG	NP_001291647.1:p.Phe60Arg
XM_006717926.2:c.724_725delinsCG	XP_006717989.1:p.Phe242Arg
XM_011539981.1:c.769_770delinsCG	XP_011538283.1:p.Phe257Arg
XM_011539982.1:c.673_674delinsCG	XP_011538284.1:p.Phe225Arg
XR_945791.1:n.1339_1340delinsCG
NM_000314.7:c.769_770delinsCG	NP_000305.3:p.Phe257Arg
NM_001304717.5:c.1288_1289delinsCG	NP_001291646.4:p.Phe430Arg
NM_001304718.2:c.178_179delinsCG	NP_001291647.1:p.Phe60Arg
NM_000314.8:c.769_770delinsCG MANE Select	NP_000305.3:p.Phe257Arg