Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994285_120994291delinsTACG , CM000674.2:g.120994285_120994291delinsTACG	GRCh38
NC_000012.11:g.121432088_121432094delinsTACG , CM000674.1:g.121432088_121432094delinsTACG	GRCh37
NC_000012.10:g.119916471_119916477delinsTACG	NCBI36
NG_011731.2:g.20540_20546delinsTACG , LRG_522:g.20540_20546delinsTACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.750+85_750+91delinsTACG	ENSP00000453965.2:n.750+85_750+91delinsTACG
ENST00000257555.11:c.835_841delinsTACG MANE Select	ENSP00000257555.5:p.His279_Leu281delinsTyrVal
ENST00000257555.10:c.835_841delinsTACG	ENSP00000257555.4:p.His279_Leu281delinsTyrVal
ENST00000400024.6:c.835_841delinsTACG	ENSP00000476181.1:p.His279_Leu281delinsTyrVal
ENST00000402929.5:n.970_976delinsTACG
ENST00000535955.5:n.43-3206_43-3200delinsTACG
ENST00000538626.2:n.191-3206_191-3200delinsTACG
ENST00000538646.5:c.648_654delinsTACG	ENSP00000443964.1:p.Ser218del
ENST00000540108.1:c.275_281delinsTACG	ENSP00000445445.1:n.275_281delinsTACG
ENST00000541395.5:c.835_841delinsTACG	ENSP00000443112.1:p.His279_Leu281delinsTyrVal
ENST00000541924.5:c.713+579_713+585delinsTACG	ENSP00000440361.1:n.713+579_713+585delinsTACG
ENST00000543427.5:c.633+659_633+665delinsTACG	ENSP00000439721.2:n.633+659_633+665delinsTACG
ENST00000544413.2:c.835_841delinsTACG	ENSP00000438804.1:p.His279_Leu281delinsTyrVal
ENST00000544574.5:c.73-2332_73-2326delinsTACG	ENSP00000438565.1:n.73-2332_73-2326delinsTACG
ENST00000560968.5:c.893+85_893+91delinsTACG
ENST00000615446.4:c.-257-1977_-257-1971delinsTACG	ENSP00000483994.1:n.-257-1977_-257-1971delinsTACG
ENST00000617366.4:c.586+706_586+712delinsTACG	ENSP00000481967.1:n.586+706_586+712delinsTACG
NM_000545.5:c.835_841delinsTACG , LRG_522t1:c.835_841delinsTACG	NP_000536.5:p.His279_Leu281delinsTyrVal
NM_000545.6:c.835_841delinsTACG	NP_000536.5:p.His279_Leu281delinsTyrVal
NM_001306179.1:c.835_841delinsTACG	NP_001293108.1:p.His279_Leu281delinsTyrVal
XM_005253931.2:c.835_841delinsTACG	XP_005253988.1:p.His279_Leu281delinsTyrVal
XM_024449168.1:c.835_841delinsTACG	XP_024304936.1:p.His279_Leu281delinsTyrVal
NM_000545.8:c.835_841delinsTACG MANE Select	NP_000536.6:p.His279_Leu281delinsTyrVal
NM_001306179.2:c.835_841delinsTACG	NP_001293108.2:p.His279_Leu281delinsTyrVal