Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120988942_120988946delinsAAACG , CM000674.2:g.120988942_120988946delinsAAACG	GRCh38
NC_000012.11:g.121426745_121426749delinsAAACG , CM000674.1:g.121426745_121426749delinsAAACG	GRCh37
NC_000012.10:g.119911128_119911132delinsAAACG	NCBI36
NG_011731.2:g.15197_15201delinsAAACG , LRG_522:g.15197_15201delinsAAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.436_440delinsAAACG	ENSP00000453965.2:p.Gln146_His147delinsLysArg
ENST00000257555.11:c.436_440delinsAAACG MANE Select	ENSP00000257555.5:p.Gln146_His147delinsLysArg
ENST00000257555.10:c.436_440delinsAAACG	ENSP00000257555.4:p.Gln146_His147delinsLysArg
ENST00000400024.6:c.436_440delinsAAACG	ENSP00000476181.1:p.Gln146_His147delinsLysArg
ENST00000402929.5:n.571_575delinsAAACG
ENST00000535955.5:n.43-8549_43-8545delinsAAACG
ENST00000538626.2:n.191-8549_191-8545delinsAAACG
ENST00000538646.5:c.436_440delinsAAACG	ENSP00000443964.1:p.Gln146_His147delinsLysArg
ENST00000540108.1:c.327-4578_327-4574delinsAAACG	ENSP00000445445.1:n.327-4578_327-4574delinsAAACG
ENST00000541395.5:c.436_440delinsAAACG	ENSP00000443112.1:p.Gln146_His147delinsLysArg
ENST00000541924.5:c.436_440delinsAAACG	ENSP00000440361.1:p.Gln146_His147delinsLysArg
ENST00000543427.5:c.436_440delinsAAACG	ENSP00000439721.2:p.Gln146_His147delinsLysArg
ENST00000544413.2:c.436_440delinsAAACG	ENSP00000438804.1:p.Gln146_His147delinsLysArg
ENST00000544574.5:c.73-7675_73-7671delinsAAACG	ENSP00000438565.1:n.73-7675_73-7671delinsAAACG
ENST00000560968.5:c.579_583delinsAAACG
ENST00000615446.4:c.-257-7320_-257-7316delinsAAACG	ENSP00000483994.1:n.-257-7320_-257-7316delinsAAACG
ENST00000617366.4:c.436_440delinsAAACG	ENSP00000481967.1:p.Gln146_His147delinsLysArg
NM_000545.5:c.436_440delinsAAACG , LRG_522t1:c.436_440delinsAAACG	NP_000536.5:p.Gln146_His147delinsLysArg
NM_000545.6:c.436_440delinsAAACG	NP_000536.5:p.Gln146_His147delinsLysArg
NM_001306179.1:c.436_440delinsAAACG	NP_001293108.1:p.Gln146_His147delinsLysArg
XM_005253931.2:c.436_440delinsAAACG	XP_005253988.1:p.Gln146_His147delinsLysArg
XM_024449168.1:c.436_440delinsAAACG	XP_024304936.1:p.Gln146_His147delinsLysArg
NM_000545.8:c.436_440delinsAAACG MANE Select	NP_000536.6:p.Gln146_His147delinsLysArg
NM_001306179.2:c.436_440delinsAAACG	NP_001293108.2:p.Gln146_His147delinsLysArg