Canonical Allele Identifier: CA2277815537

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113360_80113361delinsTC , CM000679.2:g.80113360_80113361delinsTC	GRCh38
NC_000017.10:g.78087159_78087160delinsTC , CM000679.1:g.78087159_78087160delinsTC	GRCh37
NC_000017.9:g.75701754_75701755delinsTC	NCBI36
NG_009822.1:g.16805_16806delinsTC , LRG_673:g.16805_16806delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2183_2184delinsTC	ENSP00000460543.2:p.Phe728=
ENST00000572080.2:c.*321_*322delinsTC	ENSP00000459972.2:n.*321_*322delinsTC
ENST00000577106.6:c.2183_2184delinsTC	ENSP00000458306.2:p.Phe728=
ENST00000302262.8:c.2183_2184delinsTC MANE Select	ENSP00000305692.3:p.Phe728=
ENST00000302262.7:c.2183_2184delinsTC	ENSP00000305692.3:p.Phe728=
ENST00000390015.7:c.2183_2184delinsTC	ENSP00000374665.3:p.Phe728=
ENST00000572080.1:c.602_603delinsTC
NM_000152.3:c.2183_2184delinsTC , LRG_673t1:c.2183_2184delinsTC	NP_000143.2:p.Phe728=
NM_001079803.1:c.2183_2184delinsTC	NP_001073271.1:p.Phe728=
NM_001079804.1:c.2183_2184delinsTC	NP_001073272.1:p.Phe728=
XM_005257193.1:c.2183_2184delinsTC	XP_005257250.1:p.Phe728=
XM_005257194.3:c.2183_2184delinsTC	XP_005257251.1:p.Phe728=
NM_000152.4:c.2183_2184delinsTC	NP_000143.2:p.Phe728=
NM_001079803.2:c.2183_2184delinsTC	NP_001073271.1:p.Phe728=
NM_001079804.2:c.2183_2184delinsTC	NP_001073272.1:p.Phe728=
XM_005257193.2:c.2183_2184delinsTC	XP_005257250.1:p.Phe728=
XM_005257194.4:c.2183_2184delinsTC	XP_005257251.1:p.Phe728=
NM_000152.5:c.2183_2184delinsTC MANE Select	NP_000143.2:p.Phe728=
NM_001079803.3:c.2183_2184delinsTC	NP_001073271.1:p.Phe728=
NM_001079804.3:c.2183_2184delinsTC	NP_001073272.1:p.Phe728=