Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868889_81868897del , CM000679.2:g.81868889_81868897del	GRCh38
NC_000017.10:g.79826765_79826773del , CM000679.1:g.79826765_79826773del	GRCh37
NC_000017.9:g.77420054_77420062del	NCBI36
NG_034210.1:g.7511_7519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.595_603del MANE Select	ENSP00000269321.7:p.Lys199_Asp201del
ENST00000269321.11:c.595_603del	ENSP00000269321.7:p.Lys199_Asp201del
ENST00000400721.8:c.463_471del	ENSP00000383556.4:p.Lys155_Asp157del
ENST00000541078.6:c.595_603del	ENSP00000441348.2:p.Lys199_Asp201del
ENST00000579121.5:c.502+93_502+101del	ENSP00000462960.1:n.502+93_502+101del
ENST00000580685.5:c.595_603del	ENSP00000464205.1:p.Lys199_Asp201del
ENST00000581876.5:c.370_378del	ENSP00000461956.1:p.Lys124_Asp126del
ENST00000582984.5:n.797_805del
ENST00000583868.5:c.483_491del	ENSP00000462209.1:p.Arg162_Thr164del
ENST00000584461.5:c.502+93_502+101del	ENSP00000463939.1:n.502+93_502+101del
NM_001185077.2:c.595_603del	NP_001172006.1:p.Lys199_Asp201del
NM_001185078.2:c.463_471del	NP_001172007.1:p.Lys155_Asp157del
NM_001301240.1:c.502+93_502+101del	NP_001288169.1:n.502+93_502+101del
NM_001301241.1:c.502+93_502+101del	NP_001288170.1:n.502+93_502+101del
NM_001301242.1:c.483_491del	NP_001288171.1:p.Arg162_Thr164del
NM_001301243.1:c.730_738del	NP_001288172.1:p.Lys244_Asp246del
NM_004309.5:c.595_603del	NP_004300.1:p.Lys199_Asp201del
NR_125441.1:n.654_662del
XM_011523574.1:c.730_738del	XP_011521876.1:p.Lys244_Asp246del
NM_004309.6:c.595_603del MANE Select	NP_004300.1:p.Lys199_Asp201del
NM_001185077.3:c.595_603del	NP_001172006.1:p.Lys199_Asp201del
NM_001185078.3:c.463_471del	NP_001172007.1:p.Lys155_Asp157del
NM_001301240.2:c.502+93_502+101del	NP_001288169.1:n.502+93_502+101del
NM_001301241.2:c.502+93_502+101del	NP_001288170.1:n.502+93_502+101del
NM_001301242.2:c.483_491del	NP_001288171.1:p.Arg162_Thr164del
NM_001301243.2:c.730_738del	NP_001288172.1:p.Lys244_Asp246del
NR_125441.2:n.585_593del