Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120988829_120988832delinsCCAG , CM000674.2:g.120988829_120988832delinsCCAG	GRCh38
NC_000012.11:g.121426632_121426635delinsCCAG , CM000674.1:g.121426632_121426635delinsCCAG	GRCh37
NC_000012.10:g.119911015_119911018delinsCCAG	NCBI36
NG_011731.2:g.15084_15087delinsCCAG , LRG_522:g.15084_15087delinsCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.327-4_327-1delinsCCAG	ENSP00000453965.2:n.327-4_327-1delinsCCAG
ENST00000257555.11:c.327-4_327-1delinsCCAG MANE Select	ENSP00000257555.5:n.327-4_327-1delinsCCAG
ENST00000257555.10:c.327-4_327-1delinsCCAG	ENSP00000257555.4:n.327-4_327-1delinsCCAG
ENST00000400024.6:c.327-4_327-1delinsCCAG	ENSP00000476181.1:n.327-4_327-1delinsCCAG
ENST00000402929.5:n.462-4_462-1delinsCCAG
ENST00000535955.5:n.43-8662_43-8659delinsCCAG
ENST00000538626.2:n.191-8662_191-8659delinsCCAG
ENST00000538646.5:c.327-4_327-1delinsCCAG	ENSP00000443964.1:n.327-4_327-1delinsCCAG
ENST00000540108.1:c.327-4691_327-4688delinsCCAG	ENSP00000445445.1:n.327-4691_327-4688delinsCCAG
ENST00000541395.5:c.327-4_327-1delinsCCAG	ENSP00000443112.1:n.327-4_327-1delinsCCAG
ENST00000541924.5:c.327-4_327-1delinsCCAG	ENSP00000440361.1:n.327-4_327-1delinsCCAG
ENST00000543427.5:c.327-4_327-1delinsCCAG	ENSP00000439721.2:n.327-4_327-1delinsCCAG
ENST00000544413.2:c.327-4_327-1delinsCCAG	ENSP00000438804.1:n.327-4_327-1delinsCCAG
ENST00000544574.5:c.73-7788_73-7785delinsCCAG	ENSP00000438565.1:n.73-7788_73-7785delinsCCAG
ENST00000560968.5:c.470-4_470-1delinsCCAG
ENST00000615446.4:c.-257-7433_-257-7430delinsCCAG	ENSP00000483994.1:n.-257-7433_-257-7430delinsCCAG
ENST00000617366.4:c.327-4_327-1delinsCCAG	ENSP00000481967.1:n.327-4_327-1delinsCCAG
NM_000545.5:c.327-4_327-1delinsCCAG , LRG_522t1:c.327-4_327-1delinsCCAG	NP_000536.5:n.327-4_327-1delinsCCAG
NM_000545.6:c.327-4_327-1delinsCCAG	NP_000536.5:n.327-4_327-1delinsCCAG
NM_001306179.1:c.327-4_327-1delinsCCAG	NP_001293108.1:n.327-4_327-1delinsCCAG
XM_005253931.2:c.327-4_327-1delinsCCAG	XP_005253988.1:n.327-4_327-1delinsCCAG
XM_024449168.1:c.327-4_327-1delinsCCAG	XP_024304936.1:n.327-4_327-1delinsCCAG
NM_000545.8:c.327-4_327-1delinsCCAG MANE Select	NP_000536.6:n.327-4_327-1delinsCCAG
NM_001306179.2:c.327-4_327-1delinsCCAG	NP_001293108.2:n.327-4_327-1delinsCCAG