Canonical Allele Identifier: CA2695227092
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80110733_80110737del , CM000679.2:g.80110733_80110737del GRCh38
NC_000017.10:g.78084532_78084536del , CM000679.1:g.78084532_78084536del GRCh37
NC_000017.9:g.75699127_75699131del NCBI36
NG_009822.1:g.14178_14182del , LRG_673:g.14178_14182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1444_1448del ENSP00000460543.2:p.Pro482ValfsTer22
ENST00000572080.2:c.1444_1448del ENSP00000459972.2:p.Pro482ValfsTer22
ENST00000577106.6:c.1444_1448del ENSP00000458306.2:p.Pro482ValfsTer22
ENST00000302262.8:c.1444_1448del MANE Select ENSP00000305692.3:p.Pro482ValfsTer22
ENST00000302262.7:c.1444_1448del ENSP00000305692.3:p.Pro482ValfsTer22
ENST00000390015.7:c.1444_1448del ENSP00000374665.3:p.Pro482ValfsTer22
NM_000152.3:c.1444_1448del , LRG_673t1:c.1444_1448del NP_000143.2:p.Pro482ValfsTer22
NM_001079803.1:c.1444_1448del NP_001073271.1:p.Pro482ValfsTer22
NM_001079804.1:c.1444_1448del NP_001073272.1:p.Pro482ValfsTer22
XM_005257193.1:c.1444_1448del XP_005257250.1:p.Pro482ValfsTer22
XM_005257194.3:c.1444_1448del XP_005257251.1:p.Pro482ValfsTer22
NM_000152.4:c.1444_1448del NP_000143.2:p.Pro482ValfsTer22
NM_001079803.2:c.1444_1448del NP_001073271.1:p.Pro482ValfsTer22
NM_001079804.2:c.1444_1448del NP_001073272.1:p.Pro482ValfsTer22
XM_005257193.2:c.1444_1448del XP_005257250.1:p.Pro482ValfsTer22
XM_005257194.4:c.1444_1448del XP_005257251.1:p.Pro482ValfsTer22
NM_000152.5:c.1444_1448del MANE Select NP_000143.2:p.Pro482ValfsTer22
NM_001079803.3:c.1444_1448del NP_001073271.1:p.Pro482ValfsTer22
NM_001079804.3:c.1444_1448del NP_001073272.1:p.Pro482ValfsTer22
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