Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120989045_120989046insGACAG , CM000674.2:g.120989045_120989046insGACAG	GRCh38
NC_000012.11:g.121426848_121426849insGACAG , CM000674.1:g.121426848_121426849insGACAG	GRCh37
NC_000012.10:g.119911231_119911232insGACAG	NCBI36
NG_011731.2:g.15300_15301insGACAG , LRG_522:g.15300_15301insGACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.526+13_526+14insGACAG	ENSP00000453965.2:n.526+13_526+14insGACAG
ENST00000257555.11:c.526+13_526+14insGACAG MANE Select	ENSP00000257555.5:n.526+13_526+14insGACAG
ENST00000257555.10:c.526+13_526+14insGACAG	ENSP00000257555.4:n.526+13_526+14insGACAG
ENST00000400024.6:c.526+13_526+14insGACAG	ENSP00000476181.1:n.526+13_526+14insGACAG
ENST00000402929.5:n.661+13_661+14insGACAG
ENST00000535955.5:n.43-8446_43-8445insGACAG
ENST00000538626.2:n.191-8446_191-8445insGACAG
ENST00000538646.5:c.526+13_526+14insGACAG	ENSP00000443964.1:n.526+13_526+14insGACAG
ENST00000540108.1:c.327-4475_327-4474insGACAG	ENSP00000445445.1:n.327-4475_327-4474insGACAG
ENST00000541395.5:c.526+13_526+14insGACAG	ENSP00000443112.1:n.526+13_526+14insGACAG
ENST00000541924.5:c.526+13_526+14insGACAG	ENSP00000440361.1:n.526+13_526+14insGACAG
ENST00000543427.5:c.526+13_526+14insGACAG	ENSP00000439721.2:n.526+13_526+14insGACAG
ENST00000544413.2:c.526+13_526+14insGACAG	ENSP00000438804.1:n.526+13_526+14insGACAG
ENST00000544574.5:c.73-7572_73-7571insGACAG	ENSP00000438565.1:n.73-7572_73-7571insGACAG
ENST00000560968.5:c.669+13_669+14insGACAG
ENST00000615446.4:c.-257-7217_-257-7216insGACAG	ENSP00000483994.1:n.-257-7217_-257-7216insGACAG
ENST00000617366.4:c.526+13_526+14insGACAG	ENSP00000481967.1:n.526+13_526+14insGACAG
NM_000545.5:c.526+13_526+14insGACAG , LRG_522t1:c.526+13_526+14insGACAG	NP_000536.5:n.526+13_526+14insGACAG
NM_000545.6:c.526+13_526+14insGACAG	NP_000536.5:n.526+13_526+14insGACAG
NM_001306179.1:c.526+13_526+14insGACAG	NP_001293108.1:n.526+13_526+14insGACAG
XM_005253931.2:c.526+13_526+14insGACAG	XP_005253988.1:n.526+13_526+14insGACAG
XM_024449168.1:c.526+13_526+14insGACAG	XP_024304936.1:n.526+13_526+14insGACAG
NM_000545.8:c.526+13_526+14insGACAG MANE Select	NP_000536.6:n.526+13_526+14insGACAG
NM_001306179.2:c.526+13_526+14insGACAG	NP_001293108.2:n.526+13_526+14insGACAG