Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891652_12891653del , CM000681.2:g.12891652_12891653del	GRCh38
NC_000019.9:g.13002466_13002467del , CM000681.1:g.13002466_13002467del	GRCh37
NC_000019.8:g.12863466_12863467del	NCBI36
NG_009292.1:g.5493_5494del
NG_013087.1:g.552_553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.127+130_127+131del MANE Select	ENSP00000222214.4:n.127+130_127+131del
ENST00000222214.9:c.127+130_127+131del	ENSP00000222214.4:n.127+130_127+131del
ENST00000421816.6:n.169-179_169-178del
ENST00000585420.5:n.314_315del
ENST00000585760.5:n.163+130_163+131del
ENST00000587072.1:c.127+130_127+131del	ENSP00000468584.1:n.127+130_127+131del
ENST00000587832.5:n.184+130_184+131del
ENST00000588905.5:c.92-179_92-178del	ENSP00000465770.1:n.92-179_92-178del
ENST00000589039.5:c.127+130_127+131del	ENSP00000465618.1:n.127+130_127+131del
ENST00000590445.5:c.257_258del	ENSP00000468125.1:p.His86LeufsTer9
ENST00000590530.5:c.127+130_127+131del	ENSP00000468452.1:n.127+130_127+131del
ENST00000590627.5:n.314_315del
ENST00000591043.1:n.163+130_163+131del
ENST00000591470.5:c.127+130_127+131del	ENSP00000466845.1:n.127+130_127+131del
NM_000159.3:c.127+130_127+131del	NP_000150.1:n.127+130_127+131del
NM_013976.3:c.127+130_127+131del	NP_039663.1:n.127+130_127+131del
NR_102316.1:n.235+130_235+131del
NR_102317.1:n.365_366del
XM_006722721.2:c.127+130_127+131del	XP_006722784.1:n.127+130_127+131del
XM_011527899.1:c.127+130_127+131del	XP_011526201.1:n.127+130_127+131del
XM_011527900.1:c.127+130_127+131del	XP_011526202.1:n.127+130_127+131del
XM_011527899.2:c.127+130_127+131del	XP_011526201.1:n.127+130_127+131del
XM_011527900.2:c.127+130_127+131del	XP_011526202.1:n.127+130_127+131del
XM_017026580.1:c.127+130_127+131del	XP_016882069.1:n.127+130_127+131del
NM_000159.4:c.127+130_127+131del MANE Select	NP_000150.1:n.127+130_127+131del
NM_013976.4:c.127+130_127+131del	NP_039663.1:n.127+130_127+131del
NM_013976.5:c.127+130_127+131del	NP_039663.1:n.127+130_127+131del