Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120988928_120988929insT , CM000674.2:g.120988928_120988929insT	GRCh38
NC_000012.11:g.121426731_121426732insT , CM000674.1:g.121426731_121426732insT	GRCh37
NC_000012.10:g.119911114_119911115insT	NCBI36
NG_011731.2:g.15183_15184insT , LRG_522:g.15183_15184insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.422_423insT	ENSP00000453965.2:p.Gln141HisfsTer?
ENST00000257555.11:c.422_423insT MANE Select	ENSP00000257555.5:p.Gln141HisfsTer?
ENST00000257555.10:c.422_423insT	ENSP00000257555.4:p.Gln141HisfsTer?
ENST00000400024.6:c.422_423insT	ENSP00000476181.1:p.Gln141HisfsTer?
ENST00000402929.5:n.557_558insT
ENST00000535955.5:n.43-8563_43-8562insT
ENST00000538626.2:n.191-8563_191-8562insT
ENST00000538646.5:c.422_423insT	ENSP00000443964.1:p.Gln141HisfsTer?
ENST00000540108.1:c.327-4592_327-4591insT	ENSP00000445445.1:n.327-4592_327-4591insT
ENST00000541395.5:c.422_423insT	ENSP00000443112.1:p.Gln141HisfsTer?
ENST00000541924.5:c.422_423insT	ENSP00000440361.1:p.Gln141HisfsTer?
ENST00000543427.5:c.422_423insT	ENSP00000439721.2:p.Gln141HisfsTer?
ENST00000544413.2:c.422_423insT	ENSP00000438804.1:p.Gln141HisfsTer?
ENST00000544574.5:c.73-7689_73-7688insT	ENSP00000438565.1:n.73-7689_73-7688insT
ENST00000560968.5:c.565_566insT
ENST00000615446.4:c.-257-7334_-257-7333insT	ENSP00000483994.1:n.-257-7334_-257-7333insT
ENST00000617366.4:c.422_423insT	ENSP00000481967.1:p.Gln141HisfsTer?
NM_000545.5:c.422_423insT , LRG_522t1:c.422_423insT	NP_000536.5:p.Gln141HisfsTer?
NM_000545.6:c.422_423insT	NP_000536.5:p.Gln141HisfsTer?
NM_001306179.1:c.422_423insT	NP_001293108.1:p.Gln141HisfsTer?
XM_005253931.2:c.422_423insT	XP_005253988.1:p.Gln141HisfsTer?
XM_024449168.1:c.422_423insT	XP_024304936.1:p.Gln141HisfsTer?
NM_000545.8:c.422_423insT MANE Select	NP_000536.6:p.Gln141HisfsTer?
NM_001306179.2:c.422_423insT	NP_001293108.2:p.Gln141HisfsTer?