Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995898_36995899del , CM000667.2:g.36995898_36995899del	GRCh38
NC_000005.9:g.36996000_36996001del , CM000667.1:g.36996000_36996001del	GRCh37
NC_000005.8:g.37031757_37031758del	NCBI36
NG_006987.1:g.124016_124017del
NG_006987.2:g.124016_124017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+94_3304+95del MANE Select	ENSP00000282516.8:n.3304+94_3304+95del
ENST00000652901.1:c.3304+94_3304+95del	ENSP00000499536.1:n.3304+94_3304+95del
ENST00000282516.12:c.3304+94_3304+95del	ENSP00000282516.8:n.3304+94_3304+95del
ENST00000448238.2:c.3304+94_3304+95del	ENSP00000406266.2:n.3304+94_3304+95del
ENST00000503274.1:n.655+94_655+95del
ENST00000504430.5:n.2924+94_2924+95del
ENST00000509429.1:n.55+94_55+95del
ENST00000621733.1:c.1-68680_1-68679del	ENSP00000480694.1:n.1-68680_1-68679del
NM_015384.4:c.3304+94_3304+95del	NP_056199.2:n.3304+94_3304+95del
NM_133433.3:c.3304+94_3304+95del	NP_597677.2:n.3304+94_3304+95del
XM_005248280.2:c.3304+94_3304+95del	XP_005248337.1:n.3304+94_3304+95del
XM_005248282.3:c.2560+94_2560+95del	XP_005248339.2:n.2560+94_2560+95del
XM_006714467.2:c.3304+94_3304+95del	XP_006714530.1:n.3304+94_3304+95del
XM_006714468.1:c.3304+94_3304+95del	XP_006714531.1:n.3304+94_3304+95del
XM_011514014.1:c.3122-4919_3122-4918del	XP_011512316.1:n.3122-4919_3122-4918del
XM_011514015.1:c.3304+94_3304+95del	XP_011512317.1:n.3304+94_3304+95del
XM_005248280.3:c.3304+94_3304+95del	XP_005248337.1:n.3304+94_3304+95del
XM_005248282.5:c.2644+94_2644+95del	XP_005248339.3:n.2644+94_2644+95del
XM_006714468.2:c.3304+94_3304+95del	XP_006714531.1:n.3304+94_3304+95del
XM_017009329.1:c.3304+94_3304+95del	XP_016864818.1:n.3304+94_3304+95del
XM_017009330.2:c.1687+94_1687+95del	XP_016864819.1:n.1687+94_1687+95del
XM_017009331.1:c.1678+94_1678+95del	XP_016864820.1:n.1678+94_1678+95del
NM_133433.4:c.3304+94_3304+95del MANE Select	NP_597677.2:n.3304+94_3304+95del
NM_015384.5:c.3304+94_3304+95del	NP_056199.2:n.3304+94_3304+95del