Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592613del , CM000669.2:g.117592613del	GRCh38
NC_000007.13:g.117232667del , CM000669.1:g.117232667del	GRCh37
NC_000007.12:g.117019903del	NCBI36
NG_016465.4:g.131830del , LRG_663:g.131830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2446del	ENSP00000497673.2:p.Thr816LeufsTer5
ENST00000647978.2:c.*2160del	ENSP00000497658.1:n.*2160del
ENST00000649781.2:c.2263del	ENSP00000497203.1:p.Thr755LeufsTer5
ENST00000685018.2:c.2446del	ENSP00000510194.2:p.Thr816LeufsTer5
ENST00000687278.2:c.2446del	ENSP00000509593.2:p.Thr816LeufsTer5
ENST00000699585.1:c.2446del	ENSP00000514456.1:p.Thr816LeufsTer5
ENST00000699598.1:c.2446del	ENSP00000514467.1:p.Thr816LeufsTer5
ENST00000699599.1:c.2446del	ENSP00000514468.1:p.Thr816LeufsTer5
ENST00000699600.1:c.2446del	ENSP00000514469.1:p.Thr816LeufsTer5
ENST00000699601.1:c.*746del	ENSP00000514470.1:n.*746del
ENST00000699602.1:c.2446del	ENSP00000514471.1:p.Thr816LeufsTer5
ENST00000699604.1:c.*2270del	ENSP00000514472.1:n.*2270del
ENST00000699605.1:c.2020del	ENSP00000514473.1:p.Thr674LeufsTer5
ENST00000687278.1:c.37del	ENSP00000509593.1:p.Thr13LeufsTer5
ENST00000003084.11:c.2446del MANE Select	ENSP00000003084.6:p.Thr816LeufsTer5
ENST00000647720.1:c.96del
ENST00000647978.1:c.*2160del	ENSP00000497658.1:n.*2160del
ENST00000648260.1:c.1402-10213del	ENSP00000497957.1:n.1402-10213del
ENST00000649406.1:c.2263del	ENSP00000497965.1:p.Thr755LeufsTer5
ENST00000649781.1:c.2263del	ENSP00000497203.1:p.Thr755LeufsTer5
ENST00000003084.10:c.2446del	ENSP00000003084.6:p.Thr816LeufsTer5
ENST00000426809.5:c.2356del	ENSP00000389119.1:p.Thr786LeufsTer5
NM_000492.3:c.2446del , LRG_663t1:c.2446del	NP_000483.3:p.Thr816LeufsTer5
XM_011515751.1:c.2536del	XP_011514053.1:p.Thr846LeufsTer5
XM_011515752.1:c.2536del	XP_011514054.1:p.Thr846LeufsTer5
XM_011515753.1:c.2203del	XP_011514055.1:p.Thr735LeufsTer5
XM_011515754.1:c.2203del	XP_011514056.1:p.Thr735LeufsTer5
NM_000492.4:c.2446del MANE Select	NP_000483.3:p.Thr816LeufsTer5