Canonical Allele Identifier: CA2277815106

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112664_80112667delinsCGGG , CM000679.2:g.80112664_80112667delinsCGGG	GRCh38
NC_000017.10:g.78086463_78086466delinsCGGG , CM000679.1:g.78086463_78086466delinsCGGG	GRCh37
NC_000017.9:g.75701058_75701061delinsCGGG	NCBI36
NG_009822.1:g.16109_16112delinsCGGG , LRG_673:g.16109_16112delinsCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1841_1844delinsCGGG	ENSP00000460543.2:p.Thr614=
ENST00000572080.2:c.1841_1844delinsCGGG	ENSP00000459972.2:p.Thr614=
ENST00000577106.6:c.1841_1844delinsCGGG	ENSP00000458306.2:p.Thr614=
ENST00000302262.8:c.1841_1844delinsCGGG MANE Select	ENSP00000305692.3:p.Thr614=
ENST00000302262.7:c.1841_1844delinsCGGG	ENSP00000305692.3:p.Thr614=
ENST00000390015.7:c.1841_1844delinsCGGG	ENSP00000374665.3:p.Thr614=
ENST00000570716.1:n.281_284delinsCGGG
ENST00000572080.1:c.229_232delinsCGGG
ENST00000572803.1:n.455_458delinsCGGG
NM_000152.3:c.1841_1844delinsCGGG , LRG_673t1:c.1841_1844delinsCGGG	NP_000143.2:p.Thr614=
NM_001079803.1:c.1841_1844delinsCGGG	NP_001073271.1:p.Thr614=
NM_001079804.1:c.1841_1844delinsCGGG	NP_001073272.1:p.Thr614=
XM_005257193.1:c.1841_1844delinsCGGG	XP_005257250.1:p.Thr614=
XM_005257194.3:c.1841_1844delinsCGGG	XP_005257251.1:p.Thr614=
NM_000152.4:c.1841_1844delinsCGGG	NP_000143.2:p.Thr614=
NM_001079803.2:c.1841_1844delinsCGGG	NP_001073271.1:p.Thr614=
NM_001079804.2:c.1841_1844delinsCGGG	NP_001073272.1:p.Thr614=
XM_005257193.2:c.1841_1844delinsCGGG	XP_005257250.1:p.Thr614=
XM_005257194.4:c.1841_1844delinsCGGG	XP_005257251.1:p.Thr614=
NM_000152.5:c.1841_1844delinsCGGG MANE Select	NP_000143.2:p.Thr614=
NM_001079803.3:c.1841_1844delinsCGGG	NP_001073271.1:p.Thr614=
NM_001079804.3:c.1841_1844delinsCGGG	NP_001073272.1:p.Thr614=