Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696061_29696065delinsCCTTT , CM000684.2:g.29696061_29696065delinsCCTTT	GRCh38
NC_000022.10:g.30092050_30092054delinsCCTTT , CM000684.1:g.30092050_30092054delinsCCTTT	GRCh37
NC_000022.9:g.28422050_28422054delinsCCTTT	NCBI36
NG_009057.1:g.97506_97510delinsCCTTT , LRG_511:g.97506_97510delinsCCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.1259_1263delinsCCTTT MANE Select	ENSP00000344666.5:n.1259_1263delinsCCTTT
ENST00000672461.1:c.501+818_501+822delinsCCTTT	ENSP00000500919.1:n.501+818_501+822delinsCCTTT
ENST00000672896.1:c.1319_1323delinsCCTTT	ENSP00000500117.1:n.1319_1323delinsCCTTT
ENST00000338641.8:c.1259_1263delinsCCTTT	ENSP00000344666.4:n.1259_1263delinsCCTTT
ENST00000361452.8:c.1319_1323delinsCCTTT	ENSP00000354897.4:n.1319_1323delinsCCTTT
ENST00000413209.6:c.1259_1263delinsCCTTT	ENSP00000409921.2:n.1259_1263delinsCCTTT
NM_000268.3:c.1259_1263delinsCCTTT , LRG_511t1:c.1259_1263delinsCCTTT	NP_000259.1:n.1259_1263delinsCCTTT
NM_016418.5:c.1319_1323delinsCCTTT , LRG_511t2:c.1319_1323delinsCCTTT	NP_057502.2:n.1319_1323delinsCCTTT
NM_181828.2:c.1319_1323delinsCCTTT	NP_861966.1:n.1319_1323delinsCCTTT
NM_181829.2:c.1319_1323delinsCCTTT	NP_861967.1:n.1319_1323delinsCCTTT
NM_181830.2:c.1319_1323delinsCCTTT	NP_861968.1:n.1319_1323delinsCCTTT
NM_181832.2:c.1334_1338delinsCCTTT	NP_861970.1:n.1334_1338delinsCCTTT
NM_181833.2:c.1259_1263delinsCCTTT	NP_861971.1:n.1259_1263delinsCCTTT
NR_156186.1:n.3606_3610delinsCCTTT
XM_017028810.1:c.1319_1323delinsCCTTT	XP_016884299.1:n.1319_1323delinsCCTTT
NM_000268.4:c.1259_1263delinsCCTTT MANE Select	NP_000259.1:n.1259_1263delinsCCTTT
NM_181828.3:c.1319_1323delinsCCTTT	NP_861966.1:n.1319_1323delinsCCTTT
NM_181829.3:c.1319_1323delinsCCTTT	NP_861967.1:n.1319_1323delinsCCTTT
NM_181830.3:c.1319_1323delinsCCTTT	NP_861968.1:n.1319_1323delinsCCTTT
NM_181832.3:c.1334_1338delinsCCTTT	NP_861970.1:n.1334_1338delinsCCTTT
NR_156186.2:n.3529_3533delinsCCTTT
NM_181833.3:c.1259_1263delinsCCTTT	NP_861971.1:n.1259_1263delinsCCTTT

HGVS	Amino-acid Change
ENST00000338641.10:c.1259_1263delinsCCTTT MANE Select	ENSP00000344666.5:n.1259_1263delinsCCTTT
ENST00000672461.1:c.501+818_501+822delinsCCTTT	ENSP00000500919.1:n.501+818_501+822delinsCCTTT
ENST00000672896.1:c.1319_1323delinsCCTTT	ENSP00000500117.1:n.1319_1323delinsCCTTT
ENST00000338641.8:c.1259_1263delinsCCTTT	ENSP00000344666.4:n.1259_1263delinsCCTTT
ENST00000361452.8:c.1319_1323delinsCCTTT	ENSP00000354897.4:n.1319_1323delinsCCTTT
ENST00000413209.6:c.1259_1263delinsCCTTT	ENSP00000409921.2:n.1259_1263delinsCCTTT
NM_000268.3:c.1259_1263delinsCCTTT , LRG_511t1:c.1259_1263delinsCCTTT	NP_000259.1:n.1259_1263delinsCCTTT
NM_016418.5:c.1319_1323delinsCCTTT , LRG_511t2:c.1319_1323delinsCCTTT	NP_057502.2:n.1319_1323delinsCCTTT
NM_181828.2:c.1319_1323delinsCCTTT	NP_861966.1:n.1319_1323delinsCCTTT
NM_181829.2:c.1319_1323delinsCCTTT	NP_861967.1:n.1319_1323delinsCCTTT
NM_181830.2:c.1319_1323delinsCCTTT	NP_861968.1:n.1319_1323delinsCCTTT
NM_181832.2:c.1334_1338delinsCCTTT	NP_861970.1:n.1334_1338delinsCCTTT
NM_181833.2:c.1259_1263delinsCCTTT	NP_861971.1:n.1259_1263delinsCCTTT
NR_156186.1:n.3606_3610delinsCCTTT
XM_017028810.1:c.1319_1323delinsCCTTT	XP_016884299.1:n.1319_1323delinsCCTTT
NM_000268.4:c.1259_1263delinsCCTTT MANE Select	NP_000259.1:n.1259_1263delinsCCTTT
NM_181828.3:c.1319_1323delinsCCTTT	NP_861966.1:n.1319_1323delinsCCTTT
NM_181829.3:c.1319_1323delinsCCTTT	NP_861967.1:n.1319_1323delinsCCTTT
NM_181830.3:c.1319_1323delinsCCTTT	NP_861968.1:n.1319_1323delinsCCTTT
NM_181832.3:c.1334_1338delinsCCTTT	NP_861970.1:n.1334_1338delinsCCTTT
NR_156186.2:n.3529_3533delinsCCTTT
NM_181833.3:c.1259_1263delinsCCTTT	NP_861971.1:n.1259_1263delinsCCTTT