Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891637_12891639del , CM000681.2:g.12891637_12891639del	GRCh38
NC_000019.9:g.13002451_13002453del , CM000681.1:g.13002451_13002453del	GRCh37
NC_000019.8:g.12863451_12863453del	NCBI36
NG_009292.1:g.5478_5480del
NG_013087.1:g.565_567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.127+115_127+117del MANE Select	ENSP00000222214.4:n.127+115_127+117del
ENST00000222214.9:c.127+115_127+117del	ENSP00000222214.4:n.127+115_127+117del
ENST00000421816.6:n.169-194_169-192del
ENST00000585420.5:n.299_301del
ENST00000585760.5:n.163+115_163+117del
ENST00000587072.1:c.127+115_127+117del	ENSP00000468584.1:n.127+115_127+117del
ENST00000587832.5:n.184+115_184+117del
ENST00000588905.5:c.92-194_92-192del	ENSP00000465770.1:n.92-194_92-192del
ENST00000589039.5:c.127+115_127+117del	ENSP00000465618.1:n.127+115_127+117del
ENST00000590445.5:c.242_244del	ENSP00000468125.1:p.Gly81_Gln82delinsGlu
ENST00000590530.5:c.127+115_127+117del	ENSP00000468452.1:n.127+115_127+117del
ENST00000590627.5:n.299_301del
ENST00000591043.1:n.163+115_163+117del
ENST00000591470.5:c.127+115_127+117del	ENSP00000466845.1:n.127+115_127+117del
NM_000159.3:c.127+115_127+117del	NP_000150.1:n.127+115_127+117del
NM_013976.3:c.127+115_127+117del	NP_039663.1:n.127+115_127+117del
NR_102316.1:n.235+115_235+117del
NR_102317.1:n.350_352del
XM_006722721.2:c.127+115_127+117del	XP_006722784.1:n.127+115_127+117del
XM_011527899.1:c.127+115_127+117del	XP_011526201.1:n.127+115_127+117del
XM_011527900.1:c.127+115_127+117del	XP_011526202.1:n.127+115_127+117del
XM_011527899.2:c.127+115_127+117del	XP_011526201.1:n.127+115_127+117del
XM_011527900.2:c.127+115_127+117del	XP_011526202.1:n.127+115_127+117del
XM_017026580.1:c.127+115_127+117del	XP_016882069.1:n.127+115_127+117del
NM_000159.4:c.127+115_127+117del MANE Select	NP_000150.1:n.127+115_127+117del
NM_013976.4:c.127+115_127+117del	NP_039663.1:n.127+115_127+117del
NM_013976.5:c.127+115_127+117del	NP_039663.1:n.127+115_127+117del