Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90966185_90966192del , CM000677.2:g.90966185_90966192del	GRCh38
NC_000015.9:g.91509415_91509422del , CM000677.1:g.91509415_91509422del	GRCh37
NC_000015.8:g.89310419_89310426del	NCBI36
NG_050647.1:g.33460_33467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394249.8:c.939_946del MANE Select	ENSP00000377793.3:n.939_946del
ENST00000361188.9:c.939_946del	ENSP00000354679.5:n.939_946del
ENST00000394249.7:c.939_946del	ENSP00000377793.3:n.939_946del
ENST00000556972.6:c.586_593del	ENSP00000456737.1:n.586_593del
NM_001267580.1:c.982_989del	NP_001254509.1:n.982_989del
NM_003981.3:c.939_946del	NP_003972.1:n.939_946del
NM_199413.2:c.939_946del	NP_955445.1:n.939_946del
XM_005254987.1:c.982_989del	XP_005255044.1:n.982_989del
XM_006720759.1:c.1033_1040del	XP_006720822.1:n.1033_1040del
XM_006720760.1:c.445_452del	XP_006720823.1:n.445_452del
XM_011522187.1:c.387_394del	XP_011520489.1:n.387_394del
XM_011522188.1:c.387_394del	XP_011520490.1:n.387_394del
XM_011522189.1:c.387_394del	XP_011520491.1:n.387_394del
XM_011522190.1:c.387_394del	XP_011520492.1:n.387_394del
XM_011522192.1:c.387_394del	XP_011520494.1:n.387_394del
XM_005254987.3:c.982_989del	XP_005255044.1:n.982_989del
XM_006720759.2:c.1033_1040del	XP_006720822.1:n.1033_1040del
XM_006720760.2:c.445_452del	XP_006720823.1:n.445_452del
XM_011522187.2:c.387_394del	XP_011520489.1:n.387_394del
XM_011522188.3:c.387_394del	XP_011520490.1:n.387_394del
XM_011522189.2:c.387_394del	XP_011520491.1:n.387_394del
XM_011522191.3:c.484_491del	XP_011520493.1:n.484_491del
XM_011522192.2:c.387_394del	XP_011520494.1:n.387_394del
XM_017022712.2:c.939_946del	XP_016878201.1:n.939_946del
XM_017022713.2:c.939_946del	XP_016878202.1:n.939_946del
XM_017022715.2:c.939_946del	XP_016878204.1:n.939_946del
XM_017022716.2:c.939_946del	XP_016878205.1:n.939_946del
XM_017022717.1:c.982_989del	XP_016878206.1:n.982_989del
NM_003981.4:c.939_946del MANE Select	NP_003972.2:n.939_946del
NM_001267580.2:c.982_989del	NP_001254509.2:n.982_989del
NM_199413.3:c.939_946del	NP_955445.2:n.939_946del

HGVS	Amino-acid Change
ENST00000394249.8:c.939_946del MANE Select	ENSP00000377793.3:n.939_946del
ENST00000361188.9:c.939_946del	ENSP00000354679.5:n.939_946del
ENST00000394249.7:c.939_946del	ENSP00000377793.3:n.939_946del
ENST00000556972.6:c.586_593del	ENSP00000456737.1:n.586_593del
NM_001267580.1:c.982_989del	NP_001254509.1:n.982_989del
NM_003981.3:c.939_946del	NP_003972.1:n.939_946del
NM_199413.2:c.939_946del	NP_955445.1:n.939_946del
XM_005254987.1:c.982_989del	XP_005255044.1:n.982_989del
XM_006720759.1:c.1033_1040del	XP_006720822.1:n.1033_1040del
XM_006720760.1:c.445_452del	XP_006720823.1:n.445_452del
XM_011522187.1:c.387_394del	XP_011520489.1:n.387_394del
XM_011522188.1:c.387_394del	XP_011520490.1:n.387_394del
XM_011522189.1:c.387_394del	XP_011520491.1:n.387_394del
XM_011522190.1:c.387_394del	XP_011520492.1:n.387_394del
XM_011522192.1:c.387_394del	XP_011520494.1:n.387_394del
XM_005254987.3:c.982_989del	XP_005255044.1:n.982_989del
XM_006720759.2:c.1033_1040del	XP_006720822.1:n.1033_1040del
XM_006720760.2:c.445_452del	XP_006720823.1:n.445_452del
XM_011522187.2:c.387_394del	XP_011520489.1:n.387_394del
XM_011522188.3:c.387_394del	XP_011520490.1:n.387_394del
XM_011522189.2:c.387_394del	XP_011520491.1:n.387_394del
XM_011522191.3:c.484_491del	XP_011520493.1:n.484_491del
XM_011522192.2:c.387_394del	XP_011520494.1:n.387_394del
XM_017022712.2:c.939_946del	XP_016878201.1:n.939_946del
XM_017022713.2:c.939_946del	XP_016878202.1:n.939_946del
XM_017022715.2:c.939_946del	XP_016878204.1:n.939_946del
XM_017022716.2:c.939_946del	XP_016878205.1:n.939_946del
XM_017022717.1:c.982_989del	XP_016878206.1:n.982_989del
NM_003981.4:c.939_946del MANE Select	NP_003972.2:n.939_946del
NM_001267580.2:c.982_989del	NP_001254509.2:n.982_989del
NM_199413.3:c.939_946del	NP_955445.2:n.939_946del