Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996508_120996509delinsGC , CM000674.2:g.120996508_120996509delinsGC	GRCh38
NC_000012.11:g.121434311_121434312delinsGC , CM000674.1:g.121434311_121434312delinsGC	GRCh37
NC_000012.10:g.119918694_119918695delinsGC	NCBI36
NG_011731.2:g.22763_22764delinsGC , LRG_522:g.22763_22764delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.782-33_782-32delinsGC	ENSP00000453965.2:n.782-33_782-32delinsGC
ENST00000257555.11:c.1108-33_1108-32delinsGC MANE Select	ENSP00000257555.5:n.1108-33_1108-32delinsGC
ENST00000257555.10:c.1108-33_1108-32delinsGC	ENSP00000257555.4:n.1108-33_1108-32delinsGC
ENST00000400024.6:c.1108-33_1108-32delinsGC	ENSP00000476181.1:n.1108-33_1108-32delinsGC
ENST00000402929.5:n.1243-33_1243-32delinsGC
ENST00000535955.5:n.43-983_43-982delinsGC
ENST00000538626.2:n.191-983_191-982delinsGC
ENST00000538646.5:c.84-33_84-32delinsGC	ENSP00000443964.1:n.84-33_84-32delinsGC
ENST00000540108.1:c.548-33_548-32delinsGC	ENSP00000445445.1:n.548-33_548-32delinsGC
ENST00000541395.5:c.1108-33_1108-32delinsGC	ENSP00000443112.1:n.1108-33_1108-32delinsGC
ENST00000541924.5:c.122-33_122-32delinsGC	ENSP00000440361.1:n.122-33_122-32delinsGC
ENST00000543255.1:n.119_120delinsGC
ENST00000543427.5:c.634-96_634-95delinsGC	ENSP00000439721.2:n.634-96_634-95delinsGC
ENST00000544413.2:c.1108-33_1108-32delinsGC	ENSP00000438804.1:n.1108-33_1108-32delinsGC
ENST00000544574.5:c.73-109_73-108delinsGC	ENSP00000438565.1:n.73-109_73-108delinsGC
ENST00000560968.5:c.925-33_925-32delinsGC
ENST00000615446.4:c.-105-33_-105-32delinsGC	ENSP00000483994.1:n.-105-33_-105-32delinsGC
ENST00000617366.4:c.587-1126_587-1125delinsGC	ENSP00000481967.1:n.587-1126_587-1125delinsGC
NM_000545.5:c.1108-33_1108-32delinsGC , LRG_522t1:c.1108-33_1108-32delinsGC	NP_000536.5:n.1108-33_1108-32delinsGC
NM_000545.6:c.1108-33_1108-32delinsGC	NP_000536.5:n.1108-33_1108-32delinsGC
NM_001306179.1:c.1108-33_1108-32delinsGC	NP_001293108.1:n.1108-33_1108-32delinsGC
XM_005253931.2:c.1108-33_1108-32delinsGC	XP_005253988.1:n.1108-33_1108-32delinsGC
XM_024449168.1:c.1108-33_1108-32delinsGC	XP_024304936.1:n.1108-33_1108-32delinsGC
NM_000545.8:c.1108-33_1108-32delinsGC MANE Select	NP_000536.6:n.1108-33_1108-32delinsGC
NM_001306179.2:c.1108-33_1108-32delinsGC	NP_001293108.2:n.1108-33_1108-32delinsGC