Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90966170_90966181delinsCATTTACACTAT , CM000677.2:g.90966170_90966181delinsCATTTACACTAT	GRCh38
NC_000015.9:g.91509400_91509411delinsCATTTACACTAT , CM000677.1:g.91509400_91509411delinsCATTTACACTAT	GRCh37
NC_000015.8:g.89310404_89310415delinsCATTTACACTAT	NCBI36
NG_050647.1:g.33471_33482delinsATAGTGTAAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394249.8:c.950_961delinsATAGTGTAAATG MANE Select	ENSP00000377793.3:n.950_961delinsATAGTGTAAATG
ENST00000361188.9:c.950_961delinsATAGTGTAAATG	ENSP00000354679.5:n.950_961delinsATAGTGTAAATG
ENST00000394249.7:c.950_961delinsATAGTGTAAATG	ENSP00000377793.3:n.950_961delinsATAGTGTAAATG
ENST00000556972.6:c.597_608delinsATAGTGTAAATG	ENSP00000456737.1:n.597_608delinsATAGTGTAAATG
NM_001267580.1:c.993_1004delinsATAGTGTAAATG	NP_001254509.1:n.993_1004delinsATAGTGTAAATG
NM_003981.3:c.950_961delinsATAGTGTAAATG	NP_003972.1:n.950_961delinsATAGTGTAAATG
NM_199413.2:c.950_961delinsATAGTGTAAATG	NP_955445.1:n.950_961delinsATAGTGTAAATG
XM_005254987.1:c.993_1004delinsATAGTGTAAATG	XP_005255044.1:n.993_1004delinsATAGTGTAAATG
XM_006720759.1:c.1044_1055delinsATAGTGTAAATG	XP_006720822.1:n.1044_1055delinsATAGTGTAAATG
XM_006720760.1:c.456_467delinsATAGTGTAAATG	XP_006720823.1:n.456_467delinsATAGTGTAAATG
XM_011522187.1:c.398_409delinsATAGTGTAAATG	XP_011520489.1:n.398_409delinsATAGTGTAAATG
XM_011522188.1:c.398_409delinsATAGTGTAAATG	XP_011520490.1:n.398_409delinsATAGTGTAAATG
XM_011522189.1:c.398_409delinsATAGTGTAAATG	XP_011520491.1:n.398_409delinsATAGTGTAAATG
XM_011522190.1:c.398_409delinsATAGTGTAAATG	XP_011520492.1:n.398_409delinsATAGTGTAAATG
XM_011522192.1:c.398_409delinsATAGTGTAAATG	XP_011520494.1:n.398_409delinsATAGTGTAAATG
XM_005254987.3:c.993_1004delinsATAGTGTAAATG	XP_005255044.1:n.993_1004delinsATAGTGTAAATG
XM_006720759.2:c.1044_1055delinsATAGTGTAAATG	XP_006720822.1:n.1044_1055delinsATAGTGTAAATG
XM_006720760.2:c.456_467delinsATAGTGTAAATG	XP_006720823.1:n.456_467delinsATAGTGTAAATG
XM_011522187.2:c.398_409delinsATAGTGTAAATG	XP_011520489.1:n.398_409delinsATAGTGTAAATG
XM_011522188.3:c.398_409delinsATAGTGTAAATG	XP_011520490.1:n.398_409delinsATAGTGTAAATG
XM_011522189.2:c.398_409delinsATAGTGTAAATG	XP_011520491.1:n.398_409delinsATAGTGTAAATG
XM_011522191.3:c.495_506delinsATAGTGTAAATG	XP_011520493.1:n.495_506delinsATAGTGTAAATG
XM_011522192.2:c.398_409delinsATAGTGTAAATG	XP_011520494.1:n.398_409delinsATAGTGTAAATG
XM_017022712.2:c.950_961delinsATAGTGTAAATG	XP_016878201.1:n.950_961delinsATAGTGTAAATG
XM_017022713.2:c.950_961delinsATAGTGTAAATG	XP_016878202.1:n.950_961delinsATAGTGTAAATG
XM_017022715.2:c.950_961delinsATAGTGTAAATG	XP_016878204.1:n.950_961delinsATAGTGTAAATG
XM_017022716.2:c.950_961delinsATAGTGTAAATG	XP_016878205.1:n.950_961delinsATAGTGTAAATG
XM_017022717.1:c.993_1004delinsATAGTGTAAATG	XP_016878206.1:n.993_1004delinsATAGTGTAAATG
NM_003981.4:c.950_961delinsATAGTGTAAATG MANE Select	NP_003972.2:n.950_961delinsATAGTGTAAATG
NM_001267580.2:c.993_1004delinsATAGTGTAAATG	NP_001254509.2:n.993_1004delinsATAGTGTAAATG
NM_199413.3:c.950_961delinsATAGTGTAAATG	NP_955445.2:n.950_961delinsATAGTGTAAATG

HGVS	Amino-acid Change
ENST00000394249.8:c.950_961delinsATAGTGTAAATG MANE Select	ENSP00000377793.3:n.950_961delinsATAGTGTAAATG
ENST00000361188.9:c.950_961delinsATAGTGTAAATG	ENSP00000354679.5:n.950_961delinsATAGTGTAAATG
ENST00000394249.7:c.950_961delinsATAGTGTAAATG	ENSP00000377793.3:n.950_961delinsATAGTGTAAATG
ENST00000556972.6:c.597_608delinsATAGTGTAAATG	ENSP00000456737.1:n.597_608delinsATAGTGTAAATG
NM_001267580.1:c.993_1004delinsATAGTGTAAATG	NP_001254509.1:n.993_1004delinsATAGTGTAAATG
NM_003981.3:c.950_961delinsATAGTGTAAATG	NP_003972.1:n.950_961delinsATAGTGTAAATG
NM_199413.2:c.950_961delinsATAGTGTAAATG	NP_955445.1:n.950_961delinsATAGTGTAAATG
XM_005254987.1:c.993_1004delinsATAGTGTAAATG	XP_005255044.1:n.993_1004delinsATAGTGTAAATG
XM_006720759.1:c.1044_1055delinsATAGTGTAAATG	XP_006720822.1:n.1044_1055delinsATAGTGTAAATG
XM_006720760.1:c.456_467delinsATAGTGTAAATG	XP_006720823.1:n.456_467delinsATAGTGTAAATG
XM_011522187.1:c.398_409delinsATAGTGTAAATG	XP_011520489.1:n.398_409delinsATAGTGTAAATG
XM_011522188.1:c.398_409delinsATAGTGTAAATG	XP_011520490.1:n.398_409delinsATAGTGTAAATG
XM_011522189.1:c.398_409delinsATAGTGTAAATG	XP_011520491.1:n.398_409delinsATAGTGTAAATG
XM_011522190.1:c.398_409delinsATAGTGTAAATG	XP_011520492.1:n.398_409delinsATAGTGTAAATG
XM_011522192.1:c.398_409delinsATAGTGTAAATG	XP_011520494.1:n.398_409delinsATAGTGTAAATG
XM_005254987.3:c.993_1004delinsATAGTGTAAATG	XP_005255044.1:n.993_1004delinsATAGTGTAAATG
XM_006720759.2:c.1044_1055delinsATAGTGTAAATG	XP_006720822.1:n.1044_1055delinsATAGTGTAAATG
XM_006720760.2:c.456_467delinsATAGTGTAAATG	XP_006720823.1:n.456_467delinsATAGTGTAAATG
XM_011522187.2:c.398_409delinsATAGTGTAAATG	XP_011520489.1:n.398_409delinsATAGTGTAAATG
XM_011522188.3:c.398_409delinsATAGTGTAAATG	XP_011520490.1:n.398_409delinsATAGTGTAAATG
XM_011522189.2:c.398_409delinsATAGTGTAAATG	XP_011520491.1:n.398_409delinsATAGTGTAAATG
XM_011522191.3:c.495_506delinsATAGTGTAAATG	XP_011520493.1:n.495_506delinsATAGTGTAAATG
XM_011522192.2:c.398_409delinsATAGTGTAAATG	XP_011520494.1:n.398_409delinsATAGTGTAAATG
XM_017022712.2:c.950_961delinsATAGTGTAAATG	XP_016878201.1:n.950_961delinsATAGTGTAAATG
XM_017022713.2:c.950_961delinsATAGTGTAAATG	XP_016878202.1:n.950_961delinsATAGTGTAAATG
XM_017022715.2:c.950_961delinsATAGTGTAAATG	XP_016878204.1:n.950_961delinsATAGTGTAAATG
XM_017022716.2:c.950_961delinsATAGTGTAAATG	XP_016878205.1:n.950_961delinsATAGTGTAAATG
XM_017022717.1:c.993_1004delinsATAGTGTAAATG	XP_016878206.1:n.993_1004delinsATAGTGTAAATG
NM_003981.4:c.950_961delinsATAGTGTAAATG MANE Select	NP_003972.2:n.950_961delinsATAGTGTAAATG
NM_001267580.2:c.993_1004delinsATAGTGTAAATG	NP_001254509.2:n.993_1004delinsATAGTGTAAATG
NM_199413.3:c.950_961delinsATAGTGTAAATG	NP_955445.2:n.950_961delinsATAGTGTAAATG