Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694868_29694870del , CM000684.2:g.29694868_29694870del	GRCh38
NC_000022.10:g.30090857_30090859del , CM000684.1:g.30090857_30090859del	GRCh37
NC_000022.9:g.28420857_28420859del	NCBI36
NG_009057.1:g.96313_96315del , LRG_511:g.96313_96315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.66_68del	ENSP00000354529.6:n.66_68del
ENST00000673312.2:c.1348_1350del	ENSP00000500186.2:n.1348_1350del
ENST00000338641.10:c.66_68del MANE Select	ENSP00000344666.5:n.66_68del
ENST00000361166.9:c.1272_1274del	ENSP00000354529.5:n.1272_1274del
ENST00000672461.1:c.126_128del	ENSP00000500919.1:n.126_128del
ENST00000672805.1:c.1736_1738del	ENSP00000500295.1:n.1736_1738del
ENST00000672896.1:c.126_128del	ENSP00000500117.1:n.126_128del
ENST00000673312.1:c.1873_1875del	ENSP00000500186.1:n.1873_1875del
ENST00000338641.8:c.66_68del	ENSP00000344666.4:n.66_68del
ENST00000361452.8:c.126_128del	ENSP00000354897.4:n.126_128del
ENST00000413209.6:c.66_68del	ENSP00000409921.2:n.66_68del
ENST00000432151.5:c.210_212del	ENSP00000395885.1:n.210_212del
NM_000268.3:c.66_68del , LRG_511t1:c.66_68del	NP_000259.1:n.66_68del
NM_016418.5:c.126_128del , LRG_511t2:c.126_128del	NP_057502.2:n.126_128del
NM_181828.2:c.126_128del	NP_861966.1:n.126_128del
NM_181829.2:c.126_128del	NP_861967.1:n.126_128del
NM_181830.2:c.126_128del	NP_861968.1:n.126_128del
NM_181832.2:c.141_143del	NP_861970.1:n.141_143del
NM_181833.2:c.66_68del	NP_861971.1:n.66_68del
NR_156186.1:n.2413_2415del
XM_017028809.2:c.66_68del	XP_016884298.1:n.66_68del
XM_017028810.1:c.126_128del	XP_016884299.1:n.126_128del
NM_000268.4:c.66_68del MANE Select	NP_000259.1:n.66_68del
NM_181828.3:c.126_128del	NP_861966.1:n.126_128del
NM_181829.3:c.126_128del	NP_861967.1:n.126_128del
NM_181830.3:c.126_128del	NP_861968.1:n.126_128del
NM_181832.3:c.141_143del	NP_861970.1:n.141_143del
NR_156186.2:n.2336_2338del
NM_181833.3:c.66_68del	NP_861971.1:n.66_68del

HGVS	Amino-acid Change
ENST00000361166.10:c.66_68del	ENSP00000354529.6:n.66_68del
ENST00000673312.2:c.1348_1350del	ENSP00000500186.2:n.1348_1350del
ENST00000338641.10:c.66_68del MANE Select	ENSP00000344666.5:n.66_68del
ENST00000361166.9:c.1272_1274del	ENSP00000354529.5:n.1272_1274del
ENST00000672461.1:c.126_128del	ENSP00000500919.1:n.126_128del
ENST00000672805.1:c.1736_1738del	ENSP00000500295.1:n.1736_1738del
ENST00000672896.1:c.126_128del	ENSP00000500117.1:n.126_128del
ENST00000673312.1:c.1873_1875del	ENSP00000500186.1:n.1873_1875del
ENST00000338641.8:c.66_68del	ENSP00000344666.4:n.66_68del
ENST00000361452.8:c.126_128del	ENSP00000354897.4:n.126_128del
ENST00000413209.6:c.66_68del	ENSP00000409921.2:n.66_68del
ENST00000432151.5:c.210_212del	ENSP00000395885.1:n.210_212del
NM_000268.3:c.66_68del , LRG_511t1:c.66_68del	NP_000259.1:n.66_68del
NM_016418.5:c.126_128del , LRG_511t2:c.126_128del	NP_057502.2:n.126_128del
NM_181828.2:c.126_128del	NP_861966.1:n.126_128del
NM_181829.2:c.126_128del	NP_861967.1:n.126_128del
NM_181830.2:c.126_128del	NP_861968.1:n.126_128del
NM_181832.2:c.141_143del	NP_861970.1:n.141_143del
NM_181833.2:c.66_68del	NP_861971.1:n.66_68del
NR_156186.1:n.2413_2415del
XM_017028809.2:c.66_68del	XP_016884298.1:n.66_68del
XM_017028810.1:c.126_128del	XP_016884299.1:n.126_128del
NM_000268.4:c.66_68del MANE Select	NP_000259.1:n.66_68del
NM_181828.3:c.126_128del	NP_861966.1:n.126_128del
NM_181829.3:c.126_128del	NP_861967.1:n.126_128del
NM_181830.3:c.126_128del	NP_861968.1:n.126_128del
NM_181832.3:c.141_143del	NP_861970.1:n.141_143del
NR_156186.2:n.2336_2338del
NM_181833.3:c.66_68del	NP_861971.1:n.66_68del