Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993510_120993514delinsGTGCC , CM000674.2:g.120993510_120993514delinsGTGCC	GRCh38
NC_000012.11:g.121431313_121431317delinsGTGCC , CM000674.1:g.121431313_121431317delinsGTGCC	GRCh37
NC_000012.10:g.119915696_119915700delinsGTGCC	NCBI36
NG_011731.2:g.19765_19769delinsGTGCC , LRG_522:g.19765_19769delinsGTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.527-10_527-6delinsGTGCC	ENSP00000453965.2:n.527-10_527-6delinsGTGCC
ENST00000257555.11:c.527-10_527-6delinsGTGCC MANE Select	ENSP00000257555.5:n.527-10_527-6delinsGTGCC
ENST00000257555.10:c.527-10_527-6delinsGTGCC	ENSP00000257555.4:n.527-10_527-6delinsGTGCC
ENST00000400024.6:c.527-10_527-6delinsGTGCC	ENSP00000476181.1:n.527-10_527-6delinsGTGCC
ENST00000402929.5:n.662-10_662-6delinsGTGCC
ENST00000535955.5:n.43-3981_43-3977delinsGTGCC
ENST00000538626.2:n.191-3981_191-3977delinsGTGCC
ENST00000538646.5:c.527-654_527-650delinsGTGCC	ENSP00000443964.1:n.527-654_527-650delinsGTGCC
ENST00000540108.1:c.327-10_327-6delinsGTGCC	ENSP00000445445.1:n.327-10_327-6delinsGTGCC
ENST00000541395.5:c.527-10_527-6delinsGTGCC	ENSP00000443112.1:n.527-10_527-6delinsGTGCC
ENST00000541924.5:c.527-10_527-6delinsGTGCC	ENSP00000440361.1:n.527-10_527-6delinsGTGCC
ENST00000543427.5:c.527-10_527-6delinsGTGCC	ENSP00000439721.2:n.527-10_527-6delinsGTGCC
ENST00000544413.2:c.527-10_527-6delinsGTGCC	ENSP00000438804.1:n.527-10_527-6delinsGTGCC
ENST00000544574.5:c.73-3107_73-3103delinsGTGCC	ENSP00000438565.1:n.73-3107_73-3103delinsGTGCC
ENST00000560968.5:c.670-10_670-6delinsGTGCC
ENST00000615446.4:c.-257-2752_-257-2748delinsGTGCC	ENSP00000483994.1:n.-257-2752_-257-2748delinsGTGCC
ENST00000617366.4:c.527-10_527-6delinsGTGCC	ENSP00000481967.1:n.527-10_527-6delinsGTGCC
NM_000545.5:c.527-10_527-6delinsGTGCC , LRG_522t1:c.527-10_527-6delinsGTGCC	NP_000536.5:n.527-10_527-6delinsGTGCC
NM_000545.6:c.527-10_527-6delinsGTGCC	NP_000536.5:n.527-10_527-6delinsGTGCC
NM_001306179.1:c.527-10_527-6delinsGTGCC	NP_001293108.1:n.527-10_527-6delinsGTGCC
XM_005253931.2:c.527-10_527-6delinsGTGCC	XP_005253988.1:n.527-10_527-6delinsGTGCC
XM_024449168.1:c.527-10_527-6delinsGTGCC	XP_024304936.1:n.527-10_527-6delinsGTGCC
NM_000545.8:c.527-10_527-6delinsGTGCC MANE Select	NP_000536.6:n.527-10_527-6delinsGTGCC
NM_001306179.2:c.527-10_527-6delinsGTGCC	NP_001293108.2:n.527-10_527-6delinsGTGCC