Canonical Allele Identifier: CA2277815263

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113122_80113123delinsTG , CM000679.2:g.80113122_80113123delinsTG	GRCh38
NC_000017.10:g.78086921_78086922delinsTG , CM000679.1:g.78086921_78086922delinsTG	GRCh37
NC_000017.9:g.75701516_75701517delinsTG	NCBI36
NG_009822.1:g.16567_16568delinsTG , LRG_673:g.16567_16568delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2041-96_2041-95delinsTG	ENSP00000460543.2:n.2041-96_2041-95delinsTG
ENST00000572080.2:c.*179-96_*179-95delinsTG	ENSP00000459972.2:n.*179-96_*179-95delinsTG
ENST00000577106.6:c.2041-96_2041-95delinsTG	ENSP00000458306.2:n.2041-96_2041-95delinsTG
ENST00000302262.8:c.2041-96_2041-95delinsTG MANE Select	ENSP00000305692.3:n.2041-96_2041-95delinsTG
ENST00000302262.7:c.2041-96_2041-95delinsTG	ENSP00000305692.3:n.2041-96_2041-95delinsTG
ENST00000390015.7:c.2041-96_2041-95delinsTG	ENSP00000374665.3:n.2041-96_2041-95delinsTG
ENST00000570716.1:n.481-96_481-95delinsTG
ENST00000572080.1:c.460-96_460-95delinsTG
NM_000152.3:c.2041-96_2041-95delinsTG , LRG_673t1:c.2041-96_2041-95delinsTG	NP_000143.2:n.2041-96_2041-95delinsTG
NM_001079803.1:c.2041-96_2041-95delinsTG	NP_001073271.1:n.2041-96_2041-95delinsTG
NM_001079804.1:c.2041-96_2041-95delinsTG	NP_001073272.1:n.2041-96_2041-95delinsTG
XM_005257193.1:c.2041-96_2041-95delinsTG	XP_005257250.1:n.2041-96_2041-95delinsTG
XM_005257194.3:c.2041-96_2041-95delinsTG	XP_005257251.1:n.2041-96_2041-95delinsTG
NM_000152.4:c.2041-96_2041-95delinsTG	NP_000143.2:n.2041-96_2041-95delinsTG
NM_001079803.2:c.2041-96_2041-95delinsTG	NP_001073271.1:n.2041-96_2041-95delinsTG
NM_001079804.2:c.2041-96_2041-95delinsTG	NP_001073272.1:n.2041-96_2041-95delinsTG
XM_005257193.2:c.2041-96_2041-95delinsTG	XP_005257250.1:n.2041-96_2041-95delinsTG
XM_005257194.4:c.2041-96_2041-95delinsTG	XP_005257251.1:n.2041-96_2041-95delinsTG
NM_000152.5:c.2041-96_2041-95delinsTG MANE Select	NP_000143.2:n.2041-96_2041-95delinsTG
NM_001079803.3:c.2041-96_2041-95delinsTG	NP_001073271.1:n.2041-96_2041-95delinsTG
NM_001079804.3:c.2041-96_2041-95delinsTG	NP_001073272.1:n.2041-96_2041-95delinsTG