Canonical Allele Identifier: CA1139532165
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108540_80108541insC , CM000679.2:g.80108540_80108541insC GRCh38
NC_000017.10:g.78082339_78082340insC , CM000679.1:g.78082339_78082340insC GRCh37
NC_000017.9:g.75696934_75696935insC NCBI36
NG_009822.1:g.11985_11986insC , LRG_673:g.11985_11986insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1127_1128insC ENSP00000460543.2:p.Trp376CysfsTer?
ENST00000572080.2:c.1127_1128insC ENSP00000459972.2:p.Trp376CysfsTer?
ENST00000577106.6:c.1127_1128insC ENSP00000458306.2:p.Trp376CysfsTer?
ENST00000302262.8:c.1127_1128insC MANE Select ENSP00000305692.3:p.Trp376CysfsTer?
ENST00000302262.7:c.1127_1128insC ENSP00000305692.3:p.Trp376CysfsTer?
ENST00000390015.7:c.1127_1128insC ENSP00000374665.3:p.Trp376CysfsTer?
NM_000152.3:c.1127_1128insC , LRG_673t1:c.1127_1128insC NP_000143.2:p.Trp376CysfsTer?
NM_001079803.1:c.1127_1128insC NP_001073271.1:p.Trp376CysfsTer?
NM_001079804.1:c.1127_1128insC NP_001073272.1:p.Trp376CysfsTer?
XM_005257193.1:c.1127_1128insC XP_005257250.1:p.Trp376CysfsTer?
XM_005257194.3:c.1127_1128insC XP_005257251.1:p.Trp376CysfsTer?
NM_000152.4:c.1127_1128insC NP_000143.2:p.Trp376CysfsTer?
NM_001079803.2:c.1127_1128insC NP_001073271.1:p.Trp376CysfsTer?
NM_001079804.2:c.1127_1128insC NP_001073272.1:p.Trp376CysfsTer?
XM_005257193.2:c.1127_1128insC XP_005257250.1:p.Trp376CysfsTer?
XM_005257194.4:c.1127_1128insC XP_005257251.1:p.Trp376CysfsTer?
NM_000152.5:c.1127_1128insC MANE Select NP_000143.2:p.Trp376CysfsTer?
NM_001079803.3:c.1127_1128insC NP_001073271.1:p.Trp376CysfsTer?
NM_001079804.3:c.1127_1128insC NP_001073272.1:p.Trp376CysfsTer?
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