Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966811_87966812delinsCT , CM000672.2:g.87966811_87966812delinsCT	GRCh38
NC_000010.10:g.89726568_89726569delinsCT , CM000672.1:g.89726568_89726569delinsCT	GRCh37
NC_000010.9:g.89716548_89716549delinsCT	NCBI36
NG_007466.2:g.108373_108374delinsCT , LRG_311:g.108373_108374delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1339_1340delinsCT	ENSP00000514759.2:n.1339_1340delinsCT
ENST00000710265.1:c.1580_1581delinsCT	ENSP00000518161.1:n.1580_1581delinsCT
ENST00000688158.2:n.3286_3287delinsCT
ENST00000688922.2:c.2381_2382delinsCT	ENSP00000508742.2:n.2381_2382delinsCT
ENST00000700021.1:c.1339_1340delinsCT	ENSP00000514757.1:n.1339_1340delinsCT
ENST00000700024.1:n.3943_3944delinsCT
ENST00000706954.1:c.1339_1340delinsCT	ENSP00000516674.1:n.1339_1340delinsCT
ENST00000706955.1:c.2586_2587delinsCT	ENSP00000516675.1:n.2586_2587delinsCT
ENST00000688158.1:c.2662_2663delinsCT	ENSP00000509254.1:n.2662_2663delinsCT
ENST00000688308.1:c.1339_1340delinsCT	ENSP00000508752.1:n.1339_1340delinsCT
ENST00000688922.1:c.2472_2473delinsCT
ENST00000693560.1:c.1339_1340delinsCT	ENSP00000509861.1:n.1339_1340delinsCT
ENST00000371953.8:c.1339_1340delinsCT MANE Select	ENSP00000361021.3:n.1339_1340delinsCT
ENST00000371953.7:c.1339_1340delinsCT	ENSP00000361021.3:n.1339_1340delinsCT
NM_000314.5:c.1339_1340delinsCT	NP_000305.3:n.1339_1340delinsCT
NM_000314.6:c.1339_1340delinsCT	NP_000305.3:n.1339_1340delinsCT
NM_001304717.2:c.1339_1340delinsCT	NP_001291646.2:n.1339_1340delinsCT
NM_001304718.1:c.1339_1340delinsCT	NP_001291647.1:n.1339_1340delinsCT
XM_006717926.2:c.1339_1340delinsCT	XP_006717989.1:n.1339_1340delinsCT
XM_011539982.1:c.1339_1340delinsCT	XP_011538284.1:n.1339_1340delinsCT
XR_945791.1:n.3121_3122delinsCT
NM_000314.7:c.1339_1340delinsCT	NP_000305.3:n.1339_1340delinsCT
NM_001304717.5:c.1339_1340delinsCT	NP_001291646.4:n.1339_1340delinsCT
NM_001304718.2:c.1339_1340delinsCT	NP_001291647.1:n.1339_1340delinsCT
NM_000314.8:c.1339_1340delinsCT MANE Select	NP_000305.3:n.1339_1340delinsCT

HGVS	Amino-acid Change
ENST00000700029.2:c.1339_1340delinsCT	ENSP00000514759.2:n.1339_1340delinsCT
ENST00000710265.1:c.1580_1581delinsCT	ENSP00000518161.1:n.1580_1581delinsCT
ENST00000688158.2:n.3286_3287delinsCT
ENST00000688922.2:c.2381_2382delinsCT	ENSP00000508742.2:n.2381_2382delinsCT
ENST00000700021.1:c.1339_1340delinsCT	ENSP00000514757.1:n.1339_1340delinsCT
ENST00000700024.1:n.3943_3944delinsCT
ENST00000706954.1:c.1339_1340delinsCT	ENSP00000516674.1:n.1339_1340delinsCT
ENST00000706955.1:c.2586_2587delinsCT	ENSP00000516675.1:n.2586_2587delinsCT
ENST00000688158.1:c.2662_2663delinsCT	ENSP00000509254.1:n.2662_2663delinsCT
ENST00000688308.1:c.1339_1340delinsCT	ENSP00000508752.1:n.1339_1340delinsCT
ENST00000688922.1:c.2472_2473delinsCT
ENST00000693560.1:c.1339_1340delinsCT	ENSP00000509861.1:n.1339_1340delinsCT
ENST00000371953.8:c.1339_1340delinsCT MANE Select	ENSP00000361021.3:n.1339_1340delinsCT
ENST00000371953.7:c.1339_1340delinsCT	ENSP00000361021.3:n.1339_1340delinsCT
NM_000314.5:c.1339_1340delinsCT	NP_000305.3:n.1339_1340delinsCT
NM_000314.6:c.1339_1340delinsCT	NP_000305.3:n.1339_1340delinsCT
NM_001304717.2:c.1339_1340delinsCT	NP_001291646.2:n.1339_1340delinsCT
NM_001304718.1:c.1339_1340delinsCT	NP_001291647.1:n.1339_1340delinsCT
XM_006717926.2:c.1339_1340delinsCT	XP_006717989.1:n.1339_1340delinsCT
XM_011539982.1:c.1339_1340delinsCT	XP_011538284.1:n.1339_1340delinsCT
XR_945791.1:n.3121_3122delinsCT
NM_000314.7:c.1339_1340delinsCT	NP_000305.3:n.1339_1340delinsCT
NM_001304717.5:c.1339_1340delinsCT	NP_001291646.4:n.1339_1340delinsCT
NM_001304718.2:c.1339_1340delinsCT	NP_001291647.1:n.1339_1340delinsCT
NM_000314.8:c.1339_1340delinsCT MANE Select	NP_000305.3:n.1339_1340delinsCT