Canonical Allele Identifier: CA2277818242
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118838_80118839delinsTC , CM000679.2:g.80118838_80118839delinsTC GRCh38
NC_000017.10:g.78092637_78092638delinsTC , CM000679.1:g.78092637_78092638delinsTC GRCh37
NC_000017.9:g.75707232_75707233delinsTC NCBI36
NG_009822.1:g.22283_22284delinsTC , LRG_673:g.22283_22284delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2799+33_2799+34delinsTC ENSP00000460543.2:n.2799+33_2799+34delinsTC
ENST00000572080.2:c.*937+33_*937+34delinsTC ENSP00000459972.2:n.*937+33_*937+34delinsTC
ENST00000577106.6:c.2799+33_2799+34delinsTC ENSP00000458306.2:n.2799+33_2799+34delinsTC
ENST00000302262.8:c.2799+33_2799+34delinsTC MANE Select ENSP00000305692.3:n.2799+33_2799+34delinsTC
ENST00000302262.7:c.2799+33_2799+34delinsTC ENSP00000305692.3:n.2799+33_2799+34delinsTC
ENST00000390015.7:c.2799+33_2799+34delinsTC ENSP00000374665.3:n.2799+33_2799+34delinsTC
ENST00000573556.1:n.752+33_752+34delinsTC
NM_000152.3:c.2799+33_2799+34delinsTC , LRG_673t1:c.2799+33_2799+34delinsTC NP_000143.2:n.2799+33_2799+34delinsTC
NM_001079803.1:c.2799+33_2799+34delinsTC NP_001073271.1:n.2799+33_2799+34delinsTC
NM_001079804.1:c.2799+33_2799+34delinsTC NP_001073272.1:n.2799+33_2799+34delinsTC
XM_005257193.1:c.2799+33_2799+34delinsTC XP_005257250.1:n.2799+33_2799+34delinsTC
XM_005257194.3:c.2799+33_2799+34delinsTC XP_005257251.1:n.2799+33_2799+34delinsTC
NM_000152.4:c.2799+33_2799+34delinsTC NP_000143.2:n.2799+33_2799+34delinsTC
NM_001079803.2:c.2799+33_2799+34delinsTC NP_001073271.1:n.2799+33_2799+34delinsTC
NM_001079804.2:c.2799+33_2799+34delinsTC NP_001073272.1:n.2799+33_2799+34delinsTC
XM_005257193.2:c.2799+33_2799+34delinsTC XP_005257250.1:n.2799+33_2799+34delinsTC
XM_005257194.4:c.2799+33_2799+34delinsTC XP_005257251.1:n.2799+33_2799+34delinsTC
NM_000152.5:c.2799+33_2799+34delinsTC MANE Select NP_000143.2:n.2799+33_2799+34delinsTC
NM_001079803.3:c.2799+33_2799+34delinsTC NP_001073271.1:n.2799+33_2799+34delinsTC
NM_001079804.3:c.2799+33_2799+34delinsTC NP_001073272.1:n.2799+33_2799+34delinsTC
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