Canonical Allele Identifier: CA2277814060
Gene: GAA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80110729_80110730delinsAT , CM000679.2:g.80110729_80110730delinsAT GRCh38
NC_000017.10:g.78084528_78084529delinsAT , CM000679.1:g.78084528_78084529delinsAT GRCh37
NC_000017.9:g.75699123_75699124delinsAT NCBI36
NG_009822.1:g.14174_14175delinsAT , LRG_673:g.14174_14175delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1440_1441delinsAT ENSP00000460543.2:p.Val480=
ENST00000572080.2:c.1440_1441delinsAT ENSP00000459972.2:p.Val480=
ENST00000577106.6:c.1440_1441delinsAT ENSP00000458306.2:p.Val480=
ENST00000302262.8:c.1440_1441delinsAT MANE Select ENSP00000305692.3:p.Val480=
ENST00000302262.7:c.1440_1441delinsAT ENSP00000305692.3:p.Val480=
ENST00000390015.7:c.1440_1441delinsAT ENSP00000374665.3:p.Val480=
NM_000152.3:c.1440_1441delinsAT , LRG_673t1:c.1440_1441delinsAT NP_000143.2:p.Val480=
NM_001079803.1:c.1440_1441delinsAT NP_001073271.1:p.Val480=
NM_001079804.1:c.1440_1441delinsAT NP_001073272.1:p.Val480=
XM_005257193.1:c.1440_1441delinsAT XP_005257250.1:p.Val480=
XM_005257194.3:c.1440_1441delinsAT XP_005257251.1:p.Val480=
NM_000152.4:c.1440_1441delinsAT NP_000143.2:p.Val480=
NM_001079803.2:c.1440_1441delinsAT NP_001073271.1:p.Val480=
NM_001079804.2:c.1440_1441delinsAT NP_001073272.1:p.Val480=
XM_005257193.2:c.1440_1441delinsAT XP_005257250.1:p.Val480=
XM_005257194.4:c.1440_1441delinsAT XP_005257251.1:p.Val480=
NM_000152.5:c.1440_1441delinsAT MANE Select NP_000143.2:p.Val480=
NM_001079803.3:c.1440_1441delinsAT NP_001073271.1:p.Val480=
NM_001079804.3:c.1440_1441delinsAT NP_001073272.1:p.Val480=
Search 100 bp 5'
Search 100 bp 3'