Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964511_110964519del , CM000672.2:g.110964511_110964519del	GRCh38
NC_000010.10:g.112724269_112724277del , CM000672.1:g.112724269_112724277del	GRCh37
NC_000010.9:g.112714259_112714267del	NCBI36
NG_028922.1:g.49969_49977del , LRG_753:g.49969_49977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.153_161del	ENSP00000265277.5:p.Asp52_Lys54del
ENST00000451838.2:c.-242-35904_-242-35896del	ENSP00000408275.2:n.-242-35904_-242-35896del
ENST00000480155.2:n.389_397del
ENST00000685059.1:c.153_161del	ENSP00000510210.1:p.Asp52_Lys54del
ENST00000685613.1:c.153_161del	ENSP00000510564.1:p.Asp52_Lys54del
ENST00000687592.1:n.452_460del
ENST00000688928.1:c.153_161del	ENSP00000509273.1:p.Asp52_Lys54del
ENST00000689118.1:c.153_161del	ENSP00000510554.1:p.Asp52_Lys54del
ENST00000689300.1:c.153_161del	ENSP00000510639.1:p.Asp52_Lys54del
ENST00000689997.1:c.-380-21117_-380-21109del	ENSP00000510700.1:n.-380-21117_-380-21109del
ENST00000691151.1:n.445_453del
ENST00000691369.1:c.153_161del	ENSP00000509754.1:p.Asp52_Lys54del
ENST00000691441.1:c.153_161del	ENSP00000509686.1:p.Asp52_Lys54del
ENST00000691903.1:c.153_161del	ENSP00000510314.1:p.Asp52_Lys54del
ENST00000692776.1:c.153_161del	ENSP00000508524.1:p.Asp52_Lys54del
ENST00000369452.9:c.153_161del MANE Select	ENSP00000358464.5:p.Asp52_Lys54del
ENST00000265277.9:c.153_161del	ENSP00000265277.5:p.Asp52_Lys54del
ENST00000369452.8:c.153_161del	ENSP00000358464.4:p.Asp52_Lys54del
ENST00000480155.1:n.637_645del
ENST00000489390.1:n.56-35904_56-35896del
ENST00000489783.1:n.531_539del
NM_001269039.1:c.153_161del	NP_001255968.1:p.Asp52_Lys54del
NM_007373.3:c.153_161del , LRG_753t1:c.153_161del	NP_031399.2:p.Asp52_Lys54del
XM_011540216.1:c.-380-21117_-380-21109del	XP_011538518.1:n.-380-21117_-380-21109del
NM_001269039.2:c.153_161del	NP_001255968.1:p.Asp52_Lys54del
NM_001324336.1:c.153_161del	NP_001311265.1:p.Asp52_Lys54del
NM_001324337.1:c.153_161del	NP_001311266.1:p.Asp52_Lys54del
NR_136749.1:n.116-21117_116-21109del
NM_007373.4:c.153_161del MANE Select	NP_031399.2:p.Asp52_Lys54del
NM_001269039.3:c.153_161del	NP_001255968.1:p.Asp52_Lys54del
NM_001324336.2:c.153_161del	NP_001311265.1:p.Asp52_Lys54del
NM_001324337.2:c.153_161del	NP_001311266.1:p.Asp52_Lys54del
NR_136749.2:n.55-21117_55-21109del