Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966796_87966798delinsTAG , CM000672.2:g.87966796_87966798delinsTAG	GRCh38
NC_000010.10:g.89726553_89726555delinsTAG , CM000672.1:g.89726553_89726555delinsTAG	GRCh37
NC_000010.9:g.89716533_89716535delinsTAG	NCBI36
NG_007466.2:g.108358_108360delinsTAG , LRG_311:g.108358_108360delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1324_1326delinsTAG	ENSP00000514759.2:n.1324_1326delinsTAG
ENST00000710265.1:c.1565_1567delinsTAG	ENSP00000518161.1:n.1565_1567delinsTAG
ENST00000688158.2:n.3271_3273delinsTAG
ENST00000688922.2:c.2366_2368delinsTAG	ENSP00000508742.2:n.2366_2368delinsTAG
ENST00000700021.1:c.1324_1326delinsTAG	ENSP00000514757.1:n.1324_1326delinsTAG
ENST00000700022.1:c.1875_1877delinsTAG	ENSP00000514758.1:n.1875_1877delinsTAG
ENST00000700024.1:n.3928_3930delinsTAG
ENST00000706954.1:c.1324_1326delinsTAG	ENSP00000516674.1:n.1324_1326delinsTAG
ENST00000706955.1:c.2571_2573delinsTAG	ENSP00000516675.1:n.2571_2573delinsTAG
ENST00000688158.1:c.2647_2649delinsTAG	ENSP00000509254.1:n.2647_2649delinsTAG
ENST00000688308.1:c.1324_1326delinsTAG	ENSP00000508752.1:n.1324_1326delinsTAG
ENST00000688922.1:c.2457_2459delinsTAG
ENST00000693560.1:c.1324_1326delinsTAG	ENSP00000509861.1:n.1324_1326delinsTAG
ENST00000371953.8:c.1324_1326delinsTAG MANE Select	ENSP00000361021.3:n.1324_1326delinsTAG
ENST00000371953.7:c.1324_1326delinsTAG	ENSP00000361021.3:n.1324_1326delinsTAG
NM_000314.5:c.1324_1326delinsTAG	NP_000305.3:n.1324_1326delinsTAG
NM_000314.6:c.1324_1326delinsTAG	NP_000305.3:n.1324_1326delinsTAG
NM_001304717.2:c.1324_1326delinsTAG	NP_001291646.2:n.1324_1326delinsTAG
NM_001304718.1:c.1324_1326delinsTAG	NP_001291647.1:n.1324_1326delinsTAG
XM_006717926.2:c.1324_1326delinsTAG	XP_006717989.1:n.1324_1326delinsTAG
XM_011539982.1:c.1324_1326delinsTAG	XP_011538284.1:n.1324_1326delinsTAG
XR_945791.1:n.3106_3108delinsTAG
NM_000314.7:c.1324_1326delinsTAG	NP_000305.3:n.1324_1326delinsTAG
NM_001304717.5:c.1324_1326delinsTAG	NP_001291646.4:n.1324_1326delinsTAG
NM_001304718.2:c.1324_1326delinsTAG	NP_001291647.1:n.1324_1326delinsTAG
NM_000314.8:c.1324_1326delinsTAG MANE Select	NP_000305.3:n.1324_1326delinsTAG

HGVS	Amino-acid Change
ENST00000700029.2:c.1324_1326delinsTAG	ENSP00000514759.2:n.1324_1326delinsTAG
ENST00000710265.1:c.1565_1567delinsTAG	ENSP00000518161.1:n.1565_1567delinsTAG
ENST00000688158.2:n.3271_3273delinsTAG
ENST00000688922.2:c.2366_2368delinsTAG	ENSP00000508742.2:n.2366_2368delinsTAG
ENST00000700021.1:c.1324_1326delinsTAG	ENSP00000514757.1:n.1324_1326delinsTAG
ENST00000700022.1:c.1875_1877delinsTAG	ENSP00000514758.1:n.1875_1877delinsTAG
ENST00000700024.1:n.3928_3930delinsTAG
ENST00000706954.1:c.1324_1326delinsTAG	ENSP00000516674.1:n.1324_1326delinsTAG
ENST00000706955.1:c.2571_2573delinsTAG	ENSP00000516675.1:n.2571_2573delinsTAG
ENST00000688158.1:c.2647_2649delinsTAG	ENSP00000509254.1:n.2647_2649delinsTAG
ENST00000688308.1:c.1324_1326delinsTAG	ENSP00000508752.1:n.1324_1326delinsTAG
ENST00000688922.1:c.2457_2459delinsTAG
ENST00000693560.1:c.1324_1326delinsTAG	ENSP00000509861.1:n.1324_1326delinsTAG
ENST00000371953.8:c.1324_1326delinsTAG MANE Select	ENSP00000361021.3:n.1324_1326delinsTAG
ENST00000371953.7:c.1324_1326delinsTAG	ENSP00000361021.3:n.1324_1326delinsTAG
NM_000314.5:c.1324_1326delinsTAG	NP_000305.3:n.1324_1326delinsTAG
NM_000314.6:c.1324_1326delinsTAG	NP_000305.3:n.1324_1326delinsTAG
NM_001304717.2:c.1324_1326delinsTAG	NP_001291646.2:n.1324_1326delinsTAG
NM_001304718.1:c.1324_1326delinsTAG	NP_001291647.1:n.1324_1326delinsTAG
XM_006717926.2:c.1324_1326delinsTAG	XP_006717989.1:n.1324_1326delinsTAG
XM_011539982.1:c.1324_1326delinsTAG	XP_011538284.1:n.1324_1326delinsTAG
XR_945791.1:n.3106_3108delinsTAG
NM_000314.7:c.1324_1326delinsTAG	NP_000305.3:n.1324_1326delinsTAG
NM_001304717.5:c.1324_1326delinsTAG	NP_001291646.4:n.1324_1326delinsTAG
NM_001304718.2:c.1324_1326delinsTAG	NP_001291647.1:n.1324_1326delinsTAG
NM_000314.8:c.1324_1326delinsTAG MANE Select	NP_000305.3:n.1324_1326delinsTAG