Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995868_36995869del , CM000667.2:g.36995868_36995869del	GRCh38
NC_000005.9:g.36995970_36995971del , CM000667.1:g.36995970_36995971del	GRCh37
NC_000005.8:g.37031727_37031728del	NCBI36
NG_006987.1:g.123986_123987del
NG_006987.2:g.123986_123987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+64_3304+65del MANE Select	ENSP00000282516.8:n.3304+64_3304+65del
ENST00000652901.1:c.3304+64_3304+65del	ENSP00000499536.1:n.3304+64_3304+65del
ENST00000282516.12:c.3304+64_3304+65del	ENSP00000282516.8:n.3304+64_3304+65del
ENST00000448238.2:c.3304+64_3304+65del	ENSP00000406266.2:n.3304+64_3304+65del
ENST00000503274.1:n.655+64_655+65del
ENST00000504430.5:n.2924+64_2924+65del
ENST00000509429.1:n.55+64_55+65del
ENST00000621733.1:c.1-68710_1-68709del	ENSP00000480694.1:n.1-68710_1-68709del
NM_015384.4:c.3304+64_3304+65del	NP_056199.2:n.3304+64_3304+65del
NM_133433.3:c.3304+64_3304+65del	NP_597677.2:n.3304+64_3304+65del
XM_005248280.2:c.3304+64_3304+65del	XP_005248337.1:n.3304+64_3304+65del
XM_005248282.3:c.2560+64_2560+65del	XP_005248339.2:n.2560+64_2560+65del
XM_006714467.2:c.3304+64_3304+65del	XP_006714530.1:n.3304+64_3304+65del
XM_006714468.1:c.3304+64_3304+65del	XP_006714531.1:n.3304+64_3304+65del
XM_011514014.1:c.3122-4949_3122-4948del	XP_011512316.1:n.3122-4949_3122-4948del
XM_011514015.1:c.3304+64_3304+65del	XP_011512317.1:n.3304+64_3304+65del
XM_005248280.3:c.3304+64_3304+65del	XP_005248337.1:n.3304+64_3304+65del
XM_005248282.5:c.2644+64_2644+65del	XP_005248339.3:n.2644+64_2644+65del
XM_006714468.2:c.3304+64_3304+65del	XP_006714531.1:n.3304+64_3304+65del
XM_017009329.1:c.3304+64_3304+65del	XP_016864818.1:n.3304+64_3304+65del
XM_017009330.2:c.1687+64_1687+65del	XP_016864819.1:n.1687+64_1687+65del
XM_017009331.1:c.1678+64_1678+65del	XP_016864820.1:n.1678+64_1678+65del
NM_133433.4:c.3304+64_3304+65del MANE Select	NP_597677.2:n.3304+64_3304+65del
NM_015384.5:c.3304+64_3304+65del	NP_056199.2:n.3304+64_3304+65del