Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964813_110964815del , CM000672.2:g.110964813_110964815del	GRCh38
NC_000010.10:g.112724571_112724573del , CM000672.1:g.112724571_112724573del	GRCh37
NC_000010.9:g.112714561_112714563del	NCBI36
NG_028922.1:g.50271_50273del , LRG_753:g.50271_50273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.455_457del	ENSP00000265277.5:p.Ala152_Leu153delinsVal
ENST00000451838.2:c.-242-35602_-242-35600del	ENSP00000408275.2:n.-242-35602_-242-35600del
ENST00000480155.2:n.691_693del
ENST00000685059.1:c.455_457del	ENSP00000510210.1:p.Ala152_Leu153delinsVal
ENST00000685613.1:c.455_457del	ENSP00000510564.1:p.Ala152_Leu153delinsVal
ENST00000687592.1:n.754_756del
ENST00000688928.1:c.455_457del	ENSP00000509273.1:p.Ala152_Leu153delinsVal
ENST00000689118.1:c.455_457del	ENSP00000510554.1:p.Ala152_Leu153delinsVal
ENST00000689300.1:c.455_457del	ENSP00000510639.1:p.Ala152_Leu153delinsVal
ENST00000689997.1:c.-380-20815_-380-20813del	ENSP00000510700.1:n.-380-20815_-380-20813del
ENST00000691151.1:n.747_749del
ENST00000691369.1:c.455_457del	ENSP00000509754.1:p.Ala152_Leu153delinsVal
ENST00000691441.1:c.455_457del	ENSP00000509686.1:p.Ala152_Leu153delinsVal
ENST00000691903.1:c.455_457del	ENSP00000510314.1:p.Ala152_Leu153delinsVal
ENST00000692776.1:c.455_457del	ENSP00000508524.1:p.Ala152_Leu153delinsVal
ENST00000369452.9:c.455_457del MANE Select	ENSP00000358464.5:p.Ala152_Leu153delinsVal
ENST00000265277.9:c.455_457del	ENSP00000265277.5:p.Ala152_Leu153delinsVal
ENST00000369452.8:c.455_457del	ENSP00000358464.4:p.Ala152_Leu153delinsVal
ENST00000489390.1:n.56-35602_56-35600del
NM_001269039.1:c.455_457del	NP_001255968.1:p.Ala152_Leu153delinsVal
NM_007373.3:c.455_457del , LRG_753t1:c.455_457del	NP_031399.2:p.Ala152_Leu153delinsVal
XM_011540216.1:c.-380-20815_-380-20813del	XP_011538518.1:n.-380-20815_-380-20813del
NM_001269039.2:c.455_457del	NP_001255968.1:p.Ala152_Leu153delinsVal
NM_001324336.1:c.455_457del	NP_001311265.1:p.Ala152_Leu153delinsVal
NM_001324337.1:c.455_457del	NP_001311266.1:p.Ala152_Leu153delinsVal
NR_136749.1:n.116-20815_116-20813del
NM_007373.4:c.455_457del MANE Select	NP_031399.2:p.Ala152_Leu153delinsVal
NM_001269039.3:c.455_457del	NP_001255968.1:p.Ala152_Leu153delinsVal
NM_001324336.2:c.455_457del	NP_001311265.1:p.Ala152_Leu153delinsVal
NM_001324337.2:c.455_457del	NP_001311266.1:p.Ala152_Leu153delinsVal
NR_136749.2:n.55-20815_55-20813del