Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067169_51067174delinsTATATAAAGA , CM000680.2:g.51067169_51067174delinsTATATAAAGA	GRCh38
NC_000018.9:g.48593539_48593544delinsTATATAAAGA , CM000680.1:g.48593539_48593544delinsTATATAAAGA	GRCh37
NC_000018.8:g.46847537_46847542delinsTATATAAAGA	NCBI36
NG_013013.2:g.104130_104135delinsTATATAAAGA , LRG_318:g.104130_104135delinsTATATAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1290_1295delinsTATATAAAGA	ENSP00000465878.2:p.Pro431IlefsTer2
ENST00000589076.6:c.1290_1295delinsTATATAAAGA	ENSP00000466934.2:p.Pro431IlefsTer2
ENST00000589941.2:c.1290_1295delinsTATATAAAGA	ENSP00000465874.2:p.Pro431IlefsTer2
ENST00000590061.2:c.1290_1295delinsTATATAAAGA	ENSP00000464772.2:p.Pro431IlefsTer2
ENST00000593223.2:c.1290_1295delinsTATATAAAGA	ENSP00000466118.2:p.Pro431IlefsTer2
ENST00000611848.2:c.1290_1295delinsTATATAAAGA	ENSP00000478613.2:p.Pro431IlefsTer2
ENST00000684953.1:n.2662_2667delinsTATATAAAGA
ENST00000685090.1:n.1741_1746delinsTATATAAAGA
ENST00000685232.1:n.1398_1403delinsTATATAAAGA
ENST00000688574.1:n.1398_1403delinsTATATAAAGA
ENST00000691124.1:n.2772_2777delinsTATATAAAGA
ENST00000342988.8:c.1290_1295delinsTATATAAAGA MANE Select	ENSP00000341551.3:p.Pro431IlefsTer2
ENST00000342988.7:c.1290_1295delinsTATATAAAGA	ENSP00000341551.3:p.Pro431IlefsTer2
ENST00000398417.6:c.1290_1295delinsTATATAAAGA	ENSP00000381452.1:p.Pro431IlefsTer2
ENST00000588745.5:c.1002_1007delinsTATATAAAGA	ENSP00000464901.1:p.Pro335IlefsTer2
ENST00000590499.1:n.348_353delinsTATATAAAGA
ENST00000591126.5:n.3291_3296delinsTATATAAAGA
ENST00000592186.5:c.955+7253_955+7258delinsTATATAAAGA	ENSP00000468611.1:n.955+7253_955+7258delinsTATATAAAGA
ENST00000593223.1:c.57_62delinsTATATAAAGA	ENSP00000466118.1:p.Pro20IlefsTer2
ENST00000611848.1:c.490_495delinsTATATAAAGA
NM_005359.5:c.1290_1295delinsTATATAAAGA , LRG_318t1:c.1290_1295delinsTATATAAAGA	NP_005350.1:p.Pro431IlefsTer2
NM_005359.6:c.1290_1295delinsTATATAAAGA MANE Select	NP_005350.1:p.Pro431IlefsTer2