Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696063_29696066delinsTTTC , CM000684.2:g.29696063_29696066delinsTTTC	GRCh38
NC_000022.10:g.30092052_30092055delinsTTTC , CM000684.1:g.30092052_30092055delinsTTTC	GRCh37
NC_000022.9:g.28422052_28422055delinsTTTC	NCBI36
NG_009057.1:g.97508_97511delinsTTTC , LRG_511:g.97508_97511delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.1261_1264delinsTTTC MANE Select	ENSP00000344666.5:n.1261_1264delinsTTTC
ENST00000672461.1:c.501+820_501+823delinsTTTC	ENSP00000500919.1:n.501+820_501+823delinsTTTC
ENST00000672896.1:c.1321_1324delinsTTTC	ENSP00000500117.1:n.1321_1324delinsTTTC
ENST00000338641.8:c.1261_1264delinsTTTC	ENSP00000344666.4:n.1261_1264delinsTTTC
ENST00000361452.8:c.1321_1324delinsTTTC	ENSP00000354897.4:n.1321_1324delinsTTTC
ENST00000413209.6:c.1261_1264delinsTTTC	ENSP00000409921.2:n.1261_1264delinsTTTC
NM_000268.3:c.1261_1264delinsTTTC , LRG_511t1:c.1261_1264delinsTTTC	NP_000259.1:n.1261_1264delinsTTTC
NM_016418.5:c.1321_1324delinsTTTC , LRG_511t2:c.1321_1324delinsTTTC	NP_057502.2:n.1321_1324delinsTTTC
NM_181828.2:c.1321_1324delinsTTTC	NP_861966.1:n.1321_1324delinsTTTC
NM_181829.2:c.1321_1324delinsTTTC	NP_861967.1:n.1321_1324delinsTTTC
NM_181830.2:c.1321_1324delinsTTTC	NP_861968.1:n.1321_1324delinsTTTC
NM_181832.2:c.1336_1339delinsTTTC	NP_861970.1:n.1336_1339delinsTTTC
NM_181833.2:c.1261_1264delinsTTTC	NP_861971.1:n.1261_1264delinsTTTC
NR_156186.1:n.3608_3611delinsTTTC
XM_017028810.1:c.1321_1324delinsTTTC	XP_016884299.1:n.1321_1324delinsTTTC
NM_000268.4:c.1261_1264delinsTTTC MANE Select	NP_000259.1:n.1261_1264delinsTTTC
NM_181828.3:c.1321_1324delinsTTTC	NP_861966.1:n.1321_1324delinsTTTC
NM_181829.3:c.1321_1324delinsTTTC	NP_861967.1:n.1321_1324delinsTTTC
NM_181830.3:c.1321_1324delinsTTTC	NP_861968.1:n.1321_1324delinsTTTC
NM_181832.3:c.1336_1339delinsTTTC	NP_861970.1:n.1336_1339delinsTTTC
NR_156186.2:n.3531_3534delinsTTTC
NM_181833.3:c.1261_1264delinsTTTC	NP_861971.1:n.1261_1264delinsTTTC

HGVS	Amino-acid Change
ENST00000338641.10:c.1261_1264delinsTTTC MANE Select	ENSP00000344666.5:n.1261_1264delinsTTTC
ENST00000672461.1:c.501+820_501+823delinsTTTC	ENSP00000500919.1:n.501+820_501+823delinsTTTC
ENST00000672896.1:c.1321_1324delinsTTTC	ENSP00000500117.1:n.1321_1324delinsTTTC
ENST00000338641.8:c.1261_1264delinsTTTC	ENSP00000344666.4:n.1261_1264delinsTTTC
ENST00000361452.8:c.1321_1324delinsTTTC	ENSP00000354897.4:n.1321_1324delinsTTTC
ENST00000413209.6:c.1261_1264delinsTTTC	ENSP00000409921.2:n.1261_1264delinsTTTC
NM_000268.3:c.1261_1264delinsTTTC , LRG_511t1:c.1261_1264delinsTTTC	NP_000259.1:n.1261_1264delinsTTTC
NM_016418.5:c.1321_1324delinsTTTC , LRG_511t2:c.1321_1324delinsTTTC	NP_057502.2:n.1321_1324delinsTTTC
NM_181828.2:c.1321_1324delinsTTTC	NP_861966.1:n.1321_1324delinsTTTC
NM_181829.2:c.1321_1324delinsTTTC	NP_861967.1:n.1321_1324delinsTTTC
NM_181830.2:c.1321_1324delinsTTTC	NP_861968.1:n.1321_1324delinsTTTC
NM_181832.2:c.1336_1339delinsTTTC	NP_861970.1:n.1336_1339delinsTTTC
NM_181833.2:c.1261_1264delinsTTTC	NP_861971.1:n.1261_1264delinsTTTC
NR_156186.1:n.3608_3611delinsTTTC
XM_017028810.1:c.1321_1324delinsTTTC	XP_016884299.1:n.1321_1324delinsTTTC
NM_000268.4:c.1261_1264delinsTTTC MANE Select	NP_000259.1:n.1261_1264delinsTTTC
NM_181828.3:c.1321_1324delinsTTTC	NP_861966.1:n.1321_1324delinsTTTC
NM_181829.3:c.1321_1324delinsTTTC	NP_861967.1:n.1321_1324delinsTTTC
NM_181830.3:c.1321_1324delinsTTTC	NP_861968.1:n.1321_1324delinsTTTC
NM_181832.3:c.1336_1339delinsTTTC	NP_861970.1:n.1336_1339delinsTTTC
NR_156186.2:n.3531_3534delinsTTTC
NM_181833.3:c.1261_1264delinsTTTC	NP_861971.1:n.1261_1264delinsTTTC