Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415506_21415514delinsAAAATAAAT , CM000676.2:g.21415506_21415514delinsAAAATAAAT	GRCh38
NC_000014.8:g.21883665_21883673delinsAAAATAAAT , CM000676.1:g.21883665_21883673delinsAAAATAAAT	GRCh37
NC_000014.7:g.20953505_20953513delinsAAAATAAAT	NCBI36
NG_021249.1:g.26785_26793delinsATTTATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+60_1131+68delinsATTTATTTT	ENSP00000406288.3:n.1131+60_1131+68delinsATTTATTTT
ENST00000555962.6:c.-110-12472_-110-12464delinsATTTATTTT	ENSP00000495174.1:n.-110-12472_-110-12464delinsATTTATTTT
ENST00000557364.6:c.1968+60_1968+68delinsATTTATTTT	ENSP00000451601.1:n.1968+60_1968+68delinsATTTATTTT
ENST00000642914.1:n.1011_1019delinsATTTATTTT
ENST00000643469.1:c.1968+60_1968+68delinsATTTATTTT	ENSP00000495070.1:n.1968+60_1968+68delinsATTTATTTT
ENST00000645140.1:c.1880+60_1880+68delinsATTTATTTT
ENST00000645206.1:n.482+60_482+68delinsATTTATTTT
ENST00000645929.1:c.1131+60_1131+68delinsATTTATTTT	ENSP00000494402.1:n.1131+60_1131+68delinsATTTATTTT
ENST00000646340.1:c.1974+60_1974+68delinsATTTATTTT	ENSP00000496730.1:n.1974+60_1974+68delinsATTTATTTT
ENST00000646647.2:c.1968+60_1968+68delinsATTTATTTT MANE Select	ENSP00000495240.1:n.1968+60_1968+68delinsATTTATTTT
ENST00000399982.6:c.1968+60_1968+68delinsATTTATTTT	ENSP00000382863.2:n.1968+60_1968+68delinsATTTATTTT
ENST00000430710.7:c.1131+60_1131+68delinsATTTATTTT	ENSP00000406288.3:n.1131+60_1131+68delinsATTTATTTT
ENST00000555962.5:n.151-12472_151-12464delinsATTTATTTT
ENST00000557364.5:c.1968+60_1968+68delinsATTTATTTT	ENSP00000451601.1:n.1968+60_1968+68delinsATTTATTTT
NM_001170629.1:c.1968+60_1968+68delinsATTTATTTT	NP_001164100.1:n.1968+60_1968+68delinsATTTATTTT
NM_020920.3:c.1131+60_1131+68delinsATTTATTTT	NP_065971.2:n.1131+60_1131+68delinsATTTATTTT
NM_001170629.2:c.1968+60_1968+68delinsATTTATTTT MANE Select	NP_001164100.1:n.1968+60_1968+68delinsATTTATTTT
NM_020920.4:c.1131+60_1131+68delinsATTTATTTT	NP_065971.2:n.1131+60_1131+68delinsATTTATTTT