Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957949_87957951del , CM000672.2:g.87957949_87957951del	GRCh38
NC_000010.10:g.89717706_89717708del , CM000672.1:g.89717706_89717708del	GRCh37
NC_000010.9:g.89707686_89707688del	NCBI36
NG_007466.2:g.99511_99513del , LRG_311:g.99511_99513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.731_733del	ENSP00000514759.2:p.Pro244del
ENST00000710265.1:c.731_733del	ENSP00000518161.1:p.Pro244del
ENST00000472832.3:c.731_733del	ENSP00000483066.2:p.Pro244del
ENST00000688158.2:n.1466_1468del
ENST00000688922.2:c.561_563del	ENSP00000508742.2:n.561_563del
ENST00000700021.1:c.686_688del	ENSP00000514757.1:p.Pro229del
ENST00000700022.1:c.70_72del	ENSP00000514758.1:n.70_72del
ENST00000700023.1:n.1889_1891del
ENST00000700024.1:n.2123_2125del
ENST00000700025.1:n.1500_1502del
ENST00000700026.1:n.368_370del
ENST00000700029.1:c.565_567del
ENST00000706954.1:c.731_733del	ENSP00000516674.1:p.Pro244del
ENST00000706955.1:c.766_768del	ENSP00000516675.1:n.766_768del
ENST00000686459.1:c.317_319del	ENSP00000508909.1:n.317_319del
ENST00000688158.1:c.842_844del	ENSP00000509254.1:n.842_844del
ENST00000688308.1:c.731_733del	ENSP00000508752.1:p.Pro244del
ENST00000688922.1:c.652_654del
ENST00000693560.1:c.1250_1252del	ENSP00000509861.1:p.Pro417del
ENST00000371953.8:c.731_733del MANE Select	ENSP00000361021.3:p.Pro244del
ENST00000371953.7:c.731_733del	ENSP00000361021.3:p.Pro244del
ENST00000472832.2:c.158_160del	ENSP00000483066.1:p.Pro53del
NM_000314.5:c.731_733del	NP_000305.3:p.Pro244del
NM_000314.6:c.731_733del	NP_000305.3:p.Pro244del
NM_001304717.2:c.1250_1252del	NP_001291646.2:p.Pro417del
NM_001304718.1:c.140_142del	NP_001291647.1:p.Pro47del
XM_006717926.2:c.686_688del	XP_006717989.1:p.Pro229del
XM_011539981.1:c.731_733del	XP_011538283.1:p.Pro244del
XM_011539982.1:c.635_637del	XP_011538284.1:p.Pro212del
XR_945791.1:n.1301_1303del
NM_000314.7:c.731_733del	NP_000305.3:p.Pro244del
NM_001304717.5:c.1250_1252del	NP_001291646.4:p.Pro417del
NM_001304718.2:c.140_142del	NP_001291647.1:p.Pro47del
NM_000314.8:c.731_733del MANE Select	NP_000305.3:p.Pro244del