Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052016_37052018del , CM000667.2:g.37052016_37052018del	GRCh38
NC_000005.9:g.37052118_37052120del , CM000667.1:g.37052118_37052120del	GRCh37
NC_000005.8:g.37087875_37087877del	NCBI36
NG_006987.1:g.180134_180136del
NG_006987.2:g.180134_180136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7062+130_7062+132del MANE Select	ENSP00000282516.8:n.7062+130_7062+132del
ENST00000652901.1:c.7062+130_7062+132del	ENSP00000499536.1:n.7062+130_7062+132del
ENST00000282516.12:c.7062+130_7062+132del	ENSP00000282516.8:n.7062+130_7062+132del
ENST00000448238.2:c.7062+130_7062+132del	ENSP00000406266.2:n.7062+130_7062+132del
ENST00000514335.1:n.944+130_944+132del
ENST00000621733.1:c.1-12562_1-12560del	ENSP00000480694.1:n.1-12562_1-12560del
NM_015384.4:c.7062+130_7062+132del	NP_056199.2:n.7062+130_7062+132del
NM_133433.3:c.7062+130_7062+132del	NP_597677.2:n.7062+130_7062+132del
XM_005248280.2:c.7062+130_7062+132del	XP_005248337.1:n.7062+130_7062+132del
XM_005248282.3:c.6318+130_6318+132del	XP_005248339.2:n.6318+130_6318+132del
XM_006714467.2:c.7062+130_7062+132del	XP_006714530.1:n.7062+130_7062+132del
XM_006714468.1:c.6864+130_6864+132del	XP_006714531.1:n.6864+130_6864+132del
XM_011514014.1:c.6681+130_6681+132del	XP_011512316.1:n.6681+130_6681+132del
XM_011514015.1:c.7062+130_7062+132del	XP_011512317.1:n.7062+130_7062+132del
XM_005248280.3:c.7062+130_7062+132del	XP_005248337.1:n.7062+130_7062+132del
XM_005248282.5:c.6402+130_6402+132del	XP_005248339.3:n.6402+130_6402+132del
XM_006714468.2:c.6864+130_6864+132del	XP_006714531.1:n.6864+130_6864+132del
XM_017009329.1:c.7062+130_7062+132del	XP_016864818.1:n.7062+130_7062+132del
XM_017009330.2:c.5445+130_5445+132del	XP_016864819.1:n.5445+130_5445+132del
XM_017009331.1:c.5436+130_5436+132del	XP_016864820.1:n.5436+130_5436+132del
NM_133433.4:c.7062+130_7062+132del MANE Select	NP_597677.2:n.7062+130_7062+132del
NM_015384.5:c.7062+130_7062+132del	NP_056199.2:n.7062+130_7062+132del