Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993435_120993436delinsGA , CM000674.2:g.120993435_120993436delinsGA	GRCh38
NC_000012.11:g.121431238_121431239delinsGA , CM000674.1:g.121431238_121431239delinsGA	GRCh37
NC_000012.10:g.119915621_119915622delinsGA	NCBI36
NG_011731.2:g.19690_19691delinsGA , LRG_522:g.19690_19691delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.527-85_527-84delinsGA	ENSP00000453965.2:n.527-85_527-84delinsGA
ENST00000257555.11:c.527-85_527-84delinsGA MANE Select	ENSP00000257555.5:n.527-85_527-84delinsGA
ENST00000257555.10:c.527-85_527-84delinsGA	ENSP00000257555.4:n.527-85_527-84delinsGA
ENST00000400024.6:c.527-85_527-84delinsGA	ENSP00000476181.1:n.527-85_527-84delinsGA
ENST00000402929.5:n.662-85_662-84delinsGA
ENST00000535955.5:n.43-4056_43-4055delinsGA
ENST00000538626.2:n.191-4056_191-4055delinsGA
ENST00000538646.5:c.527-729_527-728delinsGA	ENSP00000443964.1:n.527-729_527-728delinsGA
ENST00000540108.1:c.327-85_327-84delinsGA	ENSP00000445445.1:n.327-85_327-84delinsGA
ENST00000541395.5:c.527-85_527-84delinsGA	ENSP00000443112.1:n.527-85_527-84delinsGA
ENST00000541924.5:c.527-85_527-84delinsGA	ENSP00000440361.1:n.527-85_527-84delinsGA
ENST00000543427.5:c.527-85_527-84delinsGA	ENSP00000439721.2:n.527-85_527-84delinsGA
ENST00000544413.2:c.527-85_527-84delinsGA	ENSP00000438804.1:n.527-85_527-84delinsGA
ENST00000544574.5:c.73-3182_73-3181delinsGA	ENSP00000438565.1:n.73-3182_73-3181delinsGA
ENST00000560968.5:c.670-85_670-84delinsGA
ENST00000615446.4:c.-257-2827_-257-2826delinsGA	ENSP00000483994.1:n.-257-2827_-257-2826delinsGA
ENST00000617366.4:c.527-85_527-84delinsGA	ENSP00000481967.1:n.527-85_527-84delinsGA
NM_000545.5:c.527-85_527-84delinsGA , LRG_522t1:c.527-85_527-84delinsGA	NP_000536.5:n.527-85_527-84delinsGA
NM_000545.6:c.527-85_527-84delinsGA	NP_000536.5:n.527-85_527-84delinsGA
NM_001306179.1:c.527-85_527-84delinsGA	NP_001293108.1:n.527-85_527-84delinsGA
XM_005253931.2:c.527-85_527-84delinsGA	XP_005253988.1:n.527-85_527-84delinsGA
XM_024449168.1:c.527-85_527-84delinsGA	XP_024304936.1:n.527-85_527-84delinsGA
NM_000545.8:c.527-85_527-84delinsGA MANE Select	NP_000536.6:n.527-85_527-84delinsGA
NM_001306179.2:c.527-85_527-84delinsGA	NP_001293108.2:n.527-85_527-84delinsGA