Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696118_29696124delinsGGTGGGA , CM000684.2:g.29696118_29696124delinsGGTGGGA	GRCh38
NC_000022.10:g.30092107_30092113delinsGGTGGGA , CM000684.1:g.30092107_30092113delinsGGTGGGA	GRCh37
NC_000022.9:g.28422107_28422113delinsGGTGGGA	NCBI36
NG_009057.1:g.97563_97569delinsGGTGGGA , LRG_511:g.97563_97569delinsGGTGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.1316_1322delinsGGTGGGA MANE Select	ENSP00000344666.5:n.1316_1322delinsGGTGGGA
ENST00000672461.1:c.501+875_501+881delinsGGTGGGA	ENSP00000500919.1:n.501+875_501+881delinsGGTGGGA
ENST00000672896.1:c.1376_1382delinsGGTGGGA	ENSP00000500117.1:n.1376_1382delinsGGTGGGA
ENST00000338641.8:c.1316_1322delinsGGTGGGA	ENSP00000344666.4:n.1316_1322delinsGGTGGGA
ENST00000361452.8:c.1376_1382delinsGGTGGGA	ENSP00000354897.4:n.1376_1382delinsGGTGGGA
ENST00000413209.6:c.1316_1322delinsGGTGGGA	ENSP00000409921.2:n.1316_1322delinsGGTGGGA
NM_000268.3:c.1316_1322delinsGGTGGGA , LRG_511t1:c.1316_1322delinsGGTGGGA	NP_000259.1:n.1316_1322delinsGGTGGGA
NM_016418.5:c.1376_1382delinsGGTGGGA , LRG_511t2:c.1376_1382delinsGGTGGGA	NP_057502.2:n.1376_1382delinsGGTGGGA
NM_181828.2:c.1376_1382delinsGGTGGGA	NP_861966.1:n.1376_1382delinsGGTGGGA
NM_181829.2:c.1376_1382delinsGGTGGGA	NP_861967.1:n.1376_1382delinsGGTGGGA
NM_181830.2:c.1376_1382delinsGGTGGGA	NP_861968.1:n.1376_1382delinsGGTGGGA
NM_181832.2:c.1391_1397delinsGGTGGGA	NP_861970.1:n.1391_1397delinsGGTGGGA
NM_181833.2:c.1316_1322delinsGGTGGGA	NP_861971.1:n.1316_1322delinsGGTGGGA
NR_156186.1:n.3663_3669delinsGGTGGGA
XM_017028810.1:c.1376_1382delinsGGTGGGA	XP_016884299.1:n.1376_1382delinsGGTGGGA
NM_000268.4:c.1316_1322delinsGGTGGGA MANE Select	NP_000259.1:n.1316_1322delinsGGTGGGA
NM_181828.3:c.1376_1382delinsGGTGGGA	NP_861966.1:n.1376_1382delinsGGTGGGA
NM_181829.3:c.1376_1382delinsGGTGGGA	NP_861967.1:n.1376_1382delinsGGTGGGA
NM_181830.3:c.1376_1382delinsGGTGGGA	NP_861968.1:n.1376_1382delinsGGTGGGA
NM_181832.3:c.1391_1397delinsGGTGGGA	NP_861970.1:n.1391_1397delinsGGTGGGA
NR_156186.2:n.3586_3592delinsGGTGGGA
NM_181833.3:c.1316_1322delinsGGTGGGA	NP_861971.1:n.1316_1322delinsGGTGGGA

HGVS	Amino-acid Change
ENST00000338641.10:c.1316_1322delinsGGTGGGA MANE Select	ENSP00000344666.5:n.1316_1322delinsGGTGGGA
ENST00000672461.1:c.501+875_501+881delinsGGTGGGA	ENSP00000500919.1:n.501+875_501+881delinsGGTGGGA
ENST00000672896.1:c.1376_1382delinsGGTGGGA	ENSP00000500117.1:n.1376_1382delinsGGTGGGA
ENST00000338641.8:c.1316_1322delinsGGTGGGA	ENSP00000344666.4:n.1316_1322delinsGGTGGGA
ENST00000361452.8:c.1376_1382delinsGGTGGGA	ENSP00000354897.4:n.1376_1382delinsGGTGGGA
ENST00000413209.6:c.1316_1322delinsGGTGGGA	ENSP00000409921.2:n.1316_1322delinsGGTGGGA
NM_000268.3:c.1316_1322delinsGGTGGGA , LRG_511t1:c.1316_1322delinsGGTGGGA	NP_000259.1:n.1316_1322delinsGGTGGGA
NM_016418.5:c.1376_1382delinsGGTGGGA , LRG_511t2:c.1376_1382delinsGGTGGGA	NP_057502.2:n.1376_1382delinsGGTGGGA
NM_181828.2:c.1376_1382delinsGGTGGGA	NP_861966.1:n.1376_1382delinsGGTGGGA
NM_181829.2:c.1376_1382delinsGGTGGGA	NP_861967.1:n.1376_1382delinsGGTGGGA
NM_181830.2:c.1376_1382delinsGGTGGGA	NP_861968.1:n.1376_1382delinsGGTGGGA
NM_181832.2:c.1391_1397delinsGGTGGGA	NP_861970.1:n.1391_1397delinsGGTGGGA
NM_181833.2:c.1316_1322delinsGGTGGGA	NP_861971.1:n.1316_1322delinsGGTGGGA
NR_156186.1:n.3663_3669delinsGGTGGGA
XM_017028810.1:c.1376_1382delinsGGTGGGA	XP_016884299.1:n.1376_1382delinsGGTGGGA
NM_000268.4:c.1316_1322delinsGGTGGGA MANE Select	NP_000259.1:n.1316_1322delinsGGTGGGA
NM_181828.3:c.1376_1382delinsGGTGGGA	NP_861966.1:n.1376_1382delinsGGTGGGA
NM_181829.3:c.1376_1382delinsGGTGGGA	NP_861967.1:n.1376_1382delinsGGTGGGA
NM_181830.3:c.1376_1382delinsGGTGGGA	NP_861968.1:n.1376_1382delinsGGTGGGA
NM_181832.3:c.1391_1397delinsGGTGGGA	NP_861970.1:n.1391_1397delinsGGTGGGA
NR_156186.2:n.3586_3592delinsGGTGGGA
NM_181833.3:c.1316_1322delinsGGTGGGA	NP_861971.1:n.1316_1322delinsGGTGGGA