Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697109_29697117delinsGCCCGGTCT , CM000684.2:g.29697109_29697117delinsGCCCGGTCT	GRCh38
NC_000022.10:g.30093098_30093106delinsGCCCGGTCT , CM000684.1:g.30093098_30093106delinsGCCCGGTCT	GRCh37
NC_000022.9:g.28423098_28423106delinsGCCCGGTCT	NCBI36
NG_009057.1:g.98554_98562delinsGCCCGGTCT , LRG_511:g.98554_98562delinsGCCCGGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.2307_2315delinsGCCCGGTCT MANE Select	ENSP00000344666.5:n.2307_2315delinsGCCCGGTCT
ENST00000672461.1:c.502-152_502-144delinsGCCCGGTCT	ENSP00000500919.1:n.502-152_502-144delinsGCCCGGTCT
ENST00000672896.1:c.2367_2375delinsGCCCGGTCT	ENSP00000500117.1:n.2367_2375delinsGCCCGGTCT
ENST00000338641.8:c.2307_2315delinsGCCCGGTCT	ENSP00000344666.4:n.2307_2315delinsGCCCGGTCT
ENST00000361452.8:c.2367_2375delinsGCCCGGTCT	ENSP00000354897.4:n.2367_2375delinsGCCCGGTCT
ENST00000413209.6:c.2307_2315delinsGCCCGGTCT	ENSP00000409921.2:n.2307_2315delinsGCCCGGTCT
NM_000268.3:c.2307_2315delinsGCCCGGTCT , LRG_511t1:c.2307_2315delinsGCCCGGTCT	NP_000259.1:n.2307_2315delinsGCCCGGTCT
NM_016418.5:c.2367_2375delinsGCCCGGTCT , LRG_511t2:c.2367_2375delinsGCCCGGTCT	NP_057502.2:n.2367_2375delinsGCCCGGTCT
NM_181828.2:c.2367_2375delinsGCCCGGTCT	NP_861966.1:n.2367_2375delinsGCCCGGTCT
NM_181829.2:c.2367_2375delinsGCCCGGTCT	NP_861967.1:n.2367_2375delinsGCCCGGTCT
NM_181830.2:c.2367_2375delinsGCCCGGTCT	NP_861968.1:n.2367_2375delinsGCCCGGTCT
NM_181832.2:c.2382_2390delinsGCCCGGTCT	NP_861970.1:n.2382_2390delinsGCCCGGTCT
NM_181833.2:c.2307_2315delinsGCCCGGTCT	NP_861971.1:n.2307_2315delinsGCCCGGTCT
NR_156186.1:n.4654_4662delinsGCCCGGTCT
XM_017028810.1:c.2367_2375delinsGCCCGGTCT	XP_016884299.1:n.2367_2375delinsGCCCGGTCT
NM_000268.4:c.2307_2315delinsGCCCGGTCT MANE Select	NP_000259.1:n.2307_2315delinsGCCCGGTCT
NM_181828.3:c.2367_2375delinsGCCCGGTCT	NP_861966.1:n.2367_2375delinsGCCCGGTCT
NM_181829.3:c.2367_2375delinsGCCCGGTCT	NP_861967.1:n.2367_2375delinsGCCCGGTCT
NM_181830.3:c.2367_2375delinsGCCCGGTCT	NP_861968.1:n.2367_2375delinsGCCCGGTCT
NM_181832.3:c.2382_2390delinsGCCCGGTCT	NP_861970.1:n.2382_2390delinsGCCCGGTCT
NR_156186.2:n.4577_4585delinsGCCCGGTCT
NM_181833.3:c.2307_2315delinsGCCCGGTCT	NP_861971.1:n.2307_2315delinsGCCCGGTCT

HGVS	Amino-acid Change
ENST00000338641.10:c.2307_2315delinsGCCCGGTCT MANE Select	ENSP00000344666.5:n.2307_2315delinsGCCCGGTCT
ENST00000672461.1:c.502-152_502-144delinsGCCCGGTCT	ENSP00000500919.1:n.502-152_502-144delinsGCCCGGTCT
ENST00000672896.1:c.2367_2375delinsGCCCGGTCT	ENSP00000500117.1:n.2367_2375delinsGCCCGGTCT
ENST00000338641.8:c.2307_2315delinsGCCCGGTCT	ENSP00000344666.4:n.2307_2315delinsGCCCGGTCT
ENST00000361452.8:c.2367_2375delinsGCCCGGTCT	ENSP00000354897.4:n.2367_2375delinsGCCCGGTCT
ENST00000413209.6:c.2307_2315delinsGCCCGGTCT	ENSP00000409921.2:n.2307_2315delinsGCCCGGTCT
NM_000268.3:c.2307_2315delinsGCCCGGTCT , LRG_511t1:c.2307_2315delinsGCCCGGTCT	NP_000259.1:n.2307_2315delinsGCCCGGTCT
NM_016418.5:c.2367_2375delinsGCCCGGTCT , LRG_511t2:c.2367_2375delinsGCCCGGTCT	NP_057502.2:n.2367_2375delinsGCCCGGTCT
NM_181828.2:c.2367_2375delinsGCCCGGTCT	NP_861966.1:n.2367_2375delinsGCCCGGTCT
NM_181829.2:c.2367_2375delinsGCCCGGTCT	NP_861967.1:n.2367_2375delinsGCCCGGTCT
NM_181830.2:c.2367_2375delinsGCCCGGTCT	NP_861968.1:n.2367_2375delinsGCCCGGTCT
NM_181832.2:c.2382_2390delinsGCCCGGTCT	NP_861970.1:n.2382_2390delinsGCCCGGTCT
NM_181833.2:c.2307_2315delinsGCCCGGTCT	NP_861971.1:n.2307_2315delinsGCCCGGTCT
NR_156186.1:n.4654_4662delinsGCCCGGTCT
XM_017028810.1:c.2367_2375delinsGCCCGGTCT	XP_016884299.1:n.2367_2375delinsGCCCGGTCT
NM_000268.4:c.2307_2315delinsGCCCGGTCT MANE Select	NP_000259.1:n.2307_2315delinsGCCCGGTCT
NM_181828.3:c.2367_2375delinsGCCCGGTCT	NP_861966.1:n.2367_2375delinsGCCCGGTCT
NM_181829.3:c.2367_2375delinsGCCCGGTCT	NP_861967.1:n.2367_2375delinsGCCCGGTCT
NM_181830.3:c.2367_2375delinsGCCCGGTCT	NP_861968.1:n.2367_2375delinsGCCCGGTCT
NM_181832.3:c.2382_2390delinsGCCCGGTCT	NP_861970.1:n.2382_2390delinsGCCCGGTCT
NR_156186.2:n.4577_4585delinsGCCCGGTCT
NM_181833.3:c.2307_2315delinsGCCCGGTCT	NP_861971.1:n.2307_2315delinsGCCCGGTCT