Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957993_87957995delinsTTT , CM000672.2:g.87957993_87957995delinsTTT	GRCh38
NC_000010.10:g.89717750_89717752delinsTTT , CM000672.1:g.89717750_89717752delinsTTT	GRCh37
NC_000010.9:g.89707730_89707732delinsTTT	NCBI36
NG_007466.2:g.99555_99557delinsTTT , LRG_311:g.99555_99557delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.775_777delinsTTT	ENSP00000514759.2:p.His259Phe
ENST00000710265.1:c.775_777delinsTTT	ENSP00000518161.1:p.His259Phe
ENST00000472832.3:c.775_777delinsTTT	ENSP00000483066.2:p.His259Phe
ENST00000688158.2:n.1510_1512delinsTTT
ENST00000688922.2:c.605_607delinsTTT	ENSP00000508742.2:n.605_607delinsTTT
ENST00000700021.1:c.730_732delinsTTT	ENSP00000514757.1:p.His244Phe
ENST00000700022.1:c.114_116delinsTTT	ENSP00000514758.1:n.114_116delinsTTT
ENST00000700023.1:n.1933_1935delinsTTT
ENST00000700024.1:n.2167_2169delinsTTT
ENST00000700025.1:n.1544_1546delinsTTT
ENST00000700026.1:n.412_414delinsTTT
ENST00000700029.1:c.609_611delinsTTT
ENST00000706954.1:c.775_777delinsTTT	ENSP00000516674.1:p.His259Phe
ENST00000706955.1:c.810_812delinsTTT	ENSP00000516675.1:n.810_812delinsTTT
ENST00000686459.1:c.361_363delinsTTT	ENSP00000508909.1:n.361_363delinsTTT
ENST00000688158.1:c.886_888delinsTTT	ENSP00000509254.1:n.886_888delinsTTT
ENST00000688308.1:c.775_777delinsTTT	ENSP00000508752.1:p.His259Phe
ENST00000688922.1:c.696_698delinsTTT
ENST00000693560.1:c.1294_1296delinsTTT	ENSP00000509861.1:p.His432Phe
ENST00000371953.8:c.775_777delinsTTT MANE Select	ENSP00000361021.3:p.His259Phe
ENST00000371953.7:c.775_777delinsTTT	ENSP00000361021.3:p.His259Phe
ENST00000472832.2:c.202_204delinsTTT	ENSP00000483066.1:p.His68Phe
NM_000314.5:c.775_777delinsTTT	NP_000305.3:p.His259Phe
NM_000314.6:c.775_777delinsTTT	NP_000305.3:p.His259Phe
NM_001304717.2:c.1294_1296delinsTTT	NP_001291646.2:p.His432Phe
NM_001304718.1:c.184_186delinsTTT	NP_001291647.1:p.His62Phe
XM_006717926.2:c.730_732delinsTTT	XP_006717989.1:p.His244Phe
XM_011539981.1:c.775_777delinsTTT	XP_011538283.1:p.His259Phe
XM_011539982.1:c.679_681delinsTTT	XP_011538284.1:p.His227Phe
XR_945791.1:n.1345_1347delinsTTT
NM_000314.7:c.775_777delinsTTT	NP_000305.3:p.His259Phe
NM_001304717.5:c.1294_1296delinsTTT	NP_001291646.4:p.His432Phe
NM_001304718.2:c.184_186delinsTTT	NP_001291647.1:p.His62Phe
NM_000314.8:c.775_777delinsTTT MANE Select	NP_000305.3:p.His259Phe