Canonical Allele Identifier: CA2277817634

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117725_80117728delinsGGCT , CM000679.2:g.80117725_80117728delinsGGCT	GRCh38
NC_000017.10:g.78091524_78091527delinsGGCT , CM000679.1:g.78091524_78091527delinsGGCT	GRCh37
NC_000017.9:g.75706119_75706122delinsGGCT	NCBI36
NG_009822.1:g.21170_21173delinsGGCT , LRG_673:g.21170_21173delinsGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2457_2460delinsGGCT	ENSP00000460543.2:p.Arg819=
ENST00000572080.2:c.*595_*598delinsGGCT	ENSP00000459972.2:n.*595_*598delinsGGCT
ENST00000577106.6:c.2457_2460delinsGGCT	ENSP00000458306.2:p.Arg819=
ENST00000302262.8:c.2457_2460delinsGGCT MANE Select	ENSP00000305692.3:p.Arg819=
ENST00000302262.7:c.2457_2460delinsGGCT	ENSP00000305692.3:p.Arg819=
ENST00000390015.7:c.2457_2460delinsGGCT	ENSP00000374665.3:p.Arg819=
ENST00000573556.1:n.410_413delinsGGCT
NM_000152.3:c.2457_2460delinsGGCT , LRG_673t1:c.2457_2460delinsGGCT	NP_000143.2:p.Arg819=
NM_001079803.1:c.2457_2460delinsGGCT	NP_001073271.1:p.Arg819=
NM_001079804.1:c.2457_2460delinsGGCT	NP_001073272.1:p.Arg819=
XM_005257193.1:c.2457_2460delinsGGCT	XP_005257250.1:p.Arg819=
XM_005257194.3:c.2457_2460delinsGGCT	XP_005257251.1:p.Arg819=
NM_000152.4:c.2457_2460delinsGGCT	NP_000143.2:p.Arg819=
NM_001079803.2:c.2457_2460delinsGGCT	NP_001073271.1:p.Arg819=
NM_001079804.2:c.2457_2460delinsGGCT	NP_001073272.1:p.Arg819=
XM_005257193.2:c.2457_2460delinsGGCT	XP_005257250.1:p.Arg819=
XM_005257194.4:c.2457_2460delinsGGCT	XP_005257251.1:p.Arg819=
NM_000152.5:c.2457_2460delinsGGCT MANE Select	NP_000143.2:p.Arg819=
NM_001079803.3:c.2457_2460delinsGGCT	NP_001073271.1:p.Arg819=
NM_001079804.3:c.2457_2460delinsGGCT	NP_001073272.1:p.Arg819=