Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957981_87957983delinsAAT , CM000672.2:g.87957981_87957983delinsAAT	GRCh38
NC_000010.10:g.89717738_89717740delinsAAT , CM000672.1:g.89717738_89717740delinsAAT	GRCh37
NC_000010.9:g.89707718_89707720delinsAAT	NCBI36
NG_007466.2:g.99543_99545delinsAAT , LRG_311:g.99543_99545delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.763_765delinsAAT	ENSP00000514759.2:p.Val255Asn
ENST00000710265.1:c.763_765delinsAAT	ENSP00000518161.1:p.Val255Asn
ENST00000472832.3:c.763_765delinsAAT	ENSP00000483066.2:p.Val255Asn
ENST00000688158.2:n.1498_1500delinsAAT
ENST00000688922.2:c.593_595delinsAAT	ENSP00000508742.2:n.593_595delinsAAT
ENST00000700021.1:c.718_720delinsAAT	ENSP00000514757.1:p.Val240Asn
ENST00000700022.1:c.102_104delinsAAT	ENSP00000514758.1:n.102_104delinsAAT
ENST00000700023.1:n.1921_1923delinsAAT
ENST00000700024.1:n.2155_2157delinsAAT
ENST00000700025.1:n.1532_1534delinsAAT
ENST00000700026.1:n.400_402delinsAAT
ENST00000700029.1:c.597_599delinsAAT
ENST00000706954.1:c.763_765delinsAAT	ENSP00000516674.1:p.Val255Asn
ENST00000706955.1:c.798_800delinsAAT	ENSP00000516675.1:n.798_800delinsAAT
ENST00000686459.1:c.349_351delinsAAT	ENSP00000508909.1:n.349_351delinsAAT
ENST00000688158.1:c.874_876delinsAAT	ENSP00000509254.1:n.874_876delinsAAT
ENST00000688308.1:c.763_765delinsAAT	ENSP00000508752.1:p.Val255Asn
ENST00000688922.1:c.684_686delinsAAT
ENST00000693560.1:c.1282_1284delinsAAT	ENSP00000509861.1:p.Val428Asn
ENST00000371953.8:c.763_765delinsAAT MANE Select	ENSP00000361021.3:p.Val255Asn
ENST00000371953.7:c.763_765delinsAAT	ENSP00000361021.3:p.Val255Asn
ENST00000472832.2:c.190_192delinsAAT	ENSP00000483066.1:p.Val64Asn
NM_000314.5:c.763_765delinsAAT	NP_000305.3:p.Val255Asn
NM_000314.6:c.763_765delinsAAT	NP_000305.3:p.Val255Asn
NM_001304717.2:c.1282_1284delinsAAT	NP_001291646.2:p.Val428Asn
NM_001304718.1:c.172_174delinsAAT	NP_001291647.1:p.Val58Asn
XM_006717926.2:c.718_720delinsAAT	XP_006717989.1:p.Val240Asn
XM_011539981.1:c.763_765delinsAAT	XP_011538283.1:p.Val255Asn
XM_011539982.1:c.667_669delinsAAT	XP_011538284.1:p.Val223Asn
XR_945791.1:n.1333_1335delinsAAT
NM_000314.7:c.763_765delinsAAT	NP_000305.3:p.Val255Asn
NM_001304717.5:c.1282_1284delinsAAT	NP_001291646.4:p.Val428Asn
NM_001304718.2:c.172_174delinsAAT	NP_001291647.1:p.Val58Asn
NM_000314.8:c.763_765delinsAAT MANE Select	NP_000305.3:p.Val255Asn