Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994056_120994057delinsGC , CM000674.2:g.120994056_120994057delinsGC	GRCh38
NC_000012.11:g.121431859_121431860delinsGC , CM000674.1:g.121431859_121431860delinsGC	GRCh37
NC_000012.10:g.119916242_119916243delinsGC	NCBI36
NG_011731.2:g.20311_20312delinsGC , LRG_522:g.20311_20312delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.714-108_714-107delinsGC	ENSP00000453965.2:n.714-108_714-107delinsGC
ENST00000257555.11:c.714-108_714-107delinsGC MANE Select	ENSP00000257555.5:n.714-108_714-107delinsGC
ENST00000257555.10:c.714-108_714-107delinsGC	ENSP00000257555.4:n.714-108_714-107delinsGC
ENST00000400024.6:c.714-108_714-107delinsGC	ENSP00000476181.1:n.714-108_714-107delinsGC
ENST00000402929.5:n.849-108_849-107delinsGC
ENST00000535955.5:n.43-3435_43-3434delinsGC
ENST00000538626.2:n.191-3435_191-3434delinsGC
ENST00000538646.5:c.527-108_527-107delinsGC	ENSP00000443964.1:n.527-108_527-107delinsGC
ENST00000540108.1:c.154-108_154-107delinsGC	ENSP00000445445.1:n.154-108_154-107delinsGC
ENST00000541395.5:c.714-108_714-107delinsGC	ENSP00000443112.1:n.714-108_714-107delinsGC
ENST00000541924.5:c.713+350_713+351delinsGC	ENSP00000440361.1:n.713+350_713+351delinsGC
ENST00000543427.5:c.633+430_633+431delinsGC	ENSP00000439721.2:n.633+430_633+431delinsGC
ENST00000544413.2:c.714-108_714-107delinsGC	ENSP00000438804.1:n.714-108_714-107delinsGC
ENST00000544574.5:c.73-2561_73-2560delinsGC	ENSP00000438565.1:n.73-2561_73-2560delinsGC
ENST00000560968.5:c.857-108_857-107delinsGC
ENST00000615446.4:c.-257-2206_-257-2205delinsGC	ENSP00000483994.1:n.-257-2206_-257-2205delinsGC
ENST00000617366.4:c.586+477_586+478delinsGC	ENSP00000481967.1:n.586+477_586+478delinsGC
NM_000545.5:c.714-108_714-107delinsGC , LRG_522t1:c.714-108_714-107delinsGC	NP_000536.5:n.714-108_714-107delinsGC
NM_000545.6:c.714-108_714-107delinsGC	NP_000536.5:n.714-108_714-107delinsGC
NM_001306179.1:c.714-108_714-107delinsGC	NP_001293108.1:n.714-108_714-107delinsGC
XM_005253931.2:c.714-108_714-107delinsGC	XP_005253988.1:n.714-108_714-107delinsGC
XM_024449168.1:c.714-108_714-107delinsGC	XP_024304936.1:n.714-108_714-107delinsGC
NM_000545.8:c.714-108_714-107delinsGC MANE Select	NP_000536.6:n.714-108_714-107delinsGC
NM_001306179.2:c.714-108_714-107delinsGC	NP_001293108.2:n.714-108_714-107delinsGC