Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957993_87957995delinsTGT , CM000672.2:g.87957993_87957995delinsTGT	GRCh38
NC_000010.10:g.89717750_89717752delinsTGT , CM000672.1:g.89717750_89717752delinsTGT	GRCh37
NC_000010.9:g.89707730_89707732delinsTGT	NCBI36
NG_007466.2:g.99555_99557delinsTGT , LRG_311:g.99555_99557delinsTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.775_777delinsTGT	ENSP00000514759.2:p.His259Cys
ENST00000710265.1:c.775_777delinsTGT	ENSP00000518161.1:p.His259Cys
ENST00000472832.3:c.775_777delinsTGT	ENSP00000483066.2:p.His259Cys
ENST00000688158.2:n.1510_1512delinsTGT
ENST00000688922.2:c.605_607delinsTGT	ENSP00000508742.2:n.605_607delinsTGT
ENST00000700021.1:c.730_732delinsTGT	ENSP00000514757.1:p.His244Cys
ENST00000700022.1:c.114_116delinsTGT	ENSP00000514758.1:n.114_116delinsTGT
ENST00000700023.1:n.1933_1935delinsTGT
ENST00000700024.1:n.2167_2169delinsTGT
ENST00000700025.1:n.1544_1546delinsTGT
ENST00000700026.1:n.412_414delinsTGT
ENST00000700029.1:c.609_611delinsTGT
ENST00000706954.1:c.775_777delinsTGT	ENSP00000516674.1:p.His259Cys
ENST00000706955.1:c.810_812delinsTGT	ENSP00000516675.1:n.810_812delinsTGT
ENST00000686459.1:c.361_363delinsTGT	ENSP00000508909.1:n.361_363delinsTGT
ENST00000688158.1:c.886_888delinsTGT	ENSP00000509254.1:n.886_888delinsTGT
ENST00000688308.1:c.775_777delinsTGT	ENSP00000508752.1:p.His259Cys
ENST00000688922.1:c.696_698delinsTGT
ENST00000693560.1:c.1294_1296delinsTGT	ENSP00000509861.1:p.His432Cys
ENST00000371953.8:c.775_777delinsTGT MANE Select	ENSP00000361021.3:p.His259Cys
ENST00000371953.7:c.775_777delinsTGT	ENSP00000361021.3:p.His259Cys
ENST00000472832.2:c.202_204delinsTGT	ENSP00000483066.1:p.His68Cys
NM_000314.5:c.775_777delinsTGT	NP_000305.3:p.His259Cys
NM_000314.6:c.775_777delinsTGT	NP_000305.3:p.His259Cys
NM_001304717.2:c.1294_1296delinsTGT	NP_001291646.2:p.His432Cys
NM_001304718.1:c.184_186delinsTGT	NP_001291647.1:p.His62Cys
XM_006717926.2:c.730_732delinsTGT	XP_006717989.1:p.His244Cys
XM_011539981.1:c.775_777delinsTGT	XP_011538283.1:p.His259Cys
XM_011539982.1:c.679_681delinsTGT	XP_011538284.1:p.His227Cys
XR_945791.1:n.1345_1347delinsTGT
NM_000314.7:c.775_777delinsTGT	NP_000305.3:p.His259Cys
NM_001304717.5:c.1294_1296delinsTGT	NP_001291646.4:p.His432Cys
NM_001304718.2:c.184_186delinsTGT	NP_001291647.1:p.His62Cys
NM_000314.8:c.775_777delinsTGT MANE Select	NP_000305.3:p.His259Cys