Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957945_87957947del , CM000672.2:g.87957945_87957947del	GRCh38
NC_000010.10:g.89717702_89717704del , CM000672.1:g.89717702_89717704del	GRCh37
NC_000010.9:g.89707682_89707684del	NCBI36
NG_007466.2:g.99507_99509del , LRG_311:g.99507_99509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.727_729del	ENSP00000514759.2:p.Phe243del
ENST00000710265.1:c.727_729del	ENSP00000518161.1:p.Phe243del
ENST00000472832.3:c.727_729del	ENSP00000483066.2:p.Phe243del
ENST00000688158.2:n.1462_1464del
ENST00000688922.2:c.557_559del	ENSP00000508742.2:n.557_559del
ENST00000700021.1:c.682_684del	ENSP00000514757.1:p.Phe228del
ENST00000700022.1:c.66_68del	ENSP00000514758.1:n.66_68del
ENST00000700023.1:n.1885_1887del
ENST00000700024.1:n.2119_2121del
ENST00000700025.1:n.1496_1498del
ENST00000700026.1:n.364_366del
ENST00000700029.1:c.561_563del
ENST00000706954.1:c.727_729del	ENSP00000516674.1:p.Phe243del
ENST00000706955.1:c.762_764del	ENSP00000516675.1:n.762_764del
ENST00000686459.1:c.313_315del	ENSP00000508909.1:n.313_315del
ENST00000688158.1:c.838_840del	ENSP00000509254.1:n.838_840del
ENST00000688308.1:c.727_729del	ENSP00000508752.1:p.Phe243del
ENST00000688922.1:c.648_650del
ENST00000693560.1:c.1246_1248del	ENSP00000509861.1:p.Phe416del
ENST00000371953.8:c.727_729del MANE Select	ENSP00000361021.3:p.Phe243del
ENST00000371953.7:c.727_729del	ENSP00000361021.3:p.Phe243del
ENST00000472832.2:c.154_156del	ENSP00000483066.1:p.Phe52del
NM_000314.5:c.727_729del	NP_000305.3:p.Phe243del
NM_000314.6:c.727_729del	NP_000305.3:p.Phe243del
NM_001304717.2:c.1246_1248del	NP_001291646.2:p.Phe416del
NM_001304718.1:c.136_138del	NP_001291647.1:p.Phe46del
XM_006717926.2:c.682_684del	XP_006717989.1:p.Phe228del
XM_011539981.1:c.727_729del	XP_011538283.1:p.Phe243del
XM_011539982.1:c.631_633del	XP_011538284.1:p.Phe211del
XR_945791.1:n.1297_1299del
NM_000314.7:c.727_729del	NP_000305.3:p.Phe243del
NM_001304717.5:c.1246_1248del	NP_001291646.4:p.Phe416del
NM_001304718.2:c.136_138del	NP_001291647.1:p.Phe46del
NM_000314.8:c.727_729del MANE Select	NP_000305.3:p.Phe243del