Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957993_87957994delinsAC , CM000672.2:g.87957993_87957994delinsAC	GRCh38
NC_000010.10:g.89717750_89717751delinsAC , CM000672.1:g.89717750_89717751delinsAC	GRCh37
NC_000010.9:g.89707730_89707731delinsAC	NCBI36
NG_007466.2:g.99555_99556delinsAC , LRG_311:g.99555_99556delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.775_776delinsAC	ENSP00000514759.2:p.His259Thr
ENST00000710265.1:c.775_776delinsAC	ENSP00000518161.1:p.His259Thr
ENST00000472832.3:c.775_776delinsAC	ENSP00000483066.2:p.His259Thr
ENST00000688158.2:n.1510_1511delinsAC
ENST00000688922.2:c.605_606delinsAC	ENSP00000508742.2:n.605_606delinsAC
ENST00000700021.1:c.730_731delinsAC	ENSP00000514757.1:p.His244Thr
ENST00000700022.1:c.114_115delinsAC	ENSP00000514758.1:n.114_115delinsAC
ENST00000700023.1:n.1933_1934delinsAC
ENST00000700024.1:n.2167_2168delinsAC
ENST00000700025.1:n.1544_1545delinsAC
ENST00000700026.1:n.412_413delinsAC
ENST00000700029.1:c.609_610delinsAC
ENST00000706954.1:c.775_776delinsAC	ENSP00000516674.1:p.His259Thr
ENST00000706955.1:c.810_811delinsAC	ENSP00000516675.1:n.810_811delinsAC
ENST00000686459.1:c.361_362delinsAC	ENSP00000508909.1:n.361_362delinsAC
ENST00000688158.1:c.886_887delinsAC	ENSP00000509254.1:n.886_887delinsAC
ENST00000688308.1:c.775_776delinsAC	ENSP00000508752.1:p.His259Thr
ENST00000688922.1:c.696_697delinsAC
ENST00000693560.1:c.1294_1295delinsAC	ENSP00000509861.1:p.His432Thr
ENST00000371953.8:c.775_776delinsAC MANE Select	ENSP00000361021.3:p.His259Thr
ENST00000371953.7:c.775_776delinsAC	ENSP00000361021.3:p.His259Thr
ENST00000472832.2:c.202_203delinsAC	ENSP00000483066.1:p.His68Thr
NM_000314.5:c.775_776delinsAC	NP_000305.3:p.His259Thr
NM_000314.6:c.775_776delinsAC	NP_000305.3:p.His259Thr
NM_001304717.2:c.1294_1295delinsAC	NP_001291646.2:p.His432Thr
NM_001304718.1:c.184_185delinsAC	NP_001291647.1:p.His62Thr
XM_006717926.2:c.730_731delinsAC	XP_006717989.1:p.His244Thr
XM_011539981.1:c.775_776delinsAC	XP_011538283.1:p.His259Thr
XM_011539982.1:c.679_680delinsAC	XP_011538284.1:p.His227Thr
XR_945791.1:n.1345_1346delinsAC
NM_000314.7:c.775_776delinsAC	NP_000305.3:p.His259Thr
NM_001304717.5:c.1294_1295delinsAC	NP_001291646.4:p.His432Thr
NM_001304718.2:c.184_185delinsAC	NP_001291647.1:p.His62Thr
NM_000314.8:c.775_776delinsAC MANE Select	NP_000305.3:p.His259Thr