Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.77393784_77393790delinsCAAACAA , CM000678.2:g.77393784_77393790delinsCAAACAA	GRCh38
NC_000016.9:g.77427681_77427687delinsCAAACAA , CM000678.1:g.77427681_77427687delinsCAAACAA	GRCh37
NC_000016.8:g.75985182_75985188delinsCAAACAA	NCBI36
NG_031879.1:g.46325_46331delinsTTGTTTG
NG_031879.2:g.46325_46331delinsTTGTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282849.10:c.496-26067_496-26061delinsTTGTTTG MANE Select	ENSP00000282849.5:n.496-26067_496-26061delinsTTGTTTG
ENST00000282849.9:c.496-26067_496-26061delinsTTGTTTG	ENSP00000282849.5:n.496-26067_496-26061delinsTTGTTTG
ENST00000449265.2:c.496-26067_496-26061delinsTTGTTTG	ENSP00000392540.2:n.496-26067_496-26061delinsTTGTTTG
ENST00000562345.1:c.294-26121_294-26115delinsTTGTTTG
ENST00000564369.1:n.422-26067_422-26061delinsTTGTTTG
ENST00000567121.5:n.353-26067_353-26061delinsTTGTTTG
ENST00000567914.1:n.340-26067_340-26061delinsTTGTTTG
ENST00000569309.1:n.453-14811_453-14805delinsTTGTTTG
NM_199355.2:c.496-26067_496-26061delinsTTGTTTG	NP_955387.1:n.496-26067_496-26061delinsTTGTTTG
XM_011522923.1:c.-25-26067_-25-26061delinsTTGTTTG	XP_011521225.1:n.-25-26067_-25-26061delinsTTGTTTG
XM_011522924.1:c.-25-26067_-25-26061delinsTTGTTTG	XP_011521226.1:n.-25-26067_-25-26061delinsTTGTTTG
NM_001326358.1:c.-25-26067_-25-26061delinsTTGTTTG	NP_001313287.1:n.-25-26067_-25-26061delinsTTGTTTG
NM_199355.3:c.496-26067_496-26061delinsTTGTTTG	NP_955387.1:n.496-26067_496-26061delinsTTGTTTG
XM_011522924.2:c.-25-26067_-25-26061delinsTTGTTTG	XP_011521226.1:n.-25-26067_-25-26061delinsTTGTTTG
XM_017022988.2:c.-585-26067_-585-26061delinsTTGTTTG	XP_016878477.1:n.-585-26067_-585-26061delinsTTGTTTG
XM_017022989.1:c.-581-26067_-581-26061delinsTTGTTTG	XP_016878478.1:n.-581-26067_-581-26061delinsTTGTTTG
NM_199355.4:c.496-26067_496-26061delinsTTGTTTG MANE Select	NP_955387.1:n.496-26067_496-26061delinsTTGTTTG
NM_001326358.2:c.-25-26067_-25-26061delinsTTGTTTG	NP_001313287.1:n.-25-26067_-25-26061delinsTTGTTTG