Canonical Allele Identifier: CA2277814231
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80111018_80111019delinsCG , CM000679.2:g.80111018_80111019delinsCG GRCh38
NC_000017.10:g.78084817_78084818delinsCG , CM000679.1:g.78084817_78084818delinsCG GRCh37
NC_000017.9:g.75699412_75699413delinsCG NCBI36
NG_009822.1:g.14463_14464delinsCG , LRG_673:g.14463_14464delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1629_1630delinsCG ENSP00000460543.2:p.Tyr543=
ENST00000572080.2:c.1629_1630delinsCG ENSP00000459972.2:p.Tyr543=
ENST00000577106.6:c.1629_1630delinsCG ENSP00000458306.2:p.Tyr543=
ENST00000302262.8:c.1629_1630delinsCG MANE Select ENSP00000305692.3:p.Tyr543=
ENST00000302262.7:c.1629_1630delinsCG ENSP00000305692.3:p.Tyr543=
ENST00000390015.7:c.1629_1630delinsCG ENSP00000374665.3:p.Tyr543=
ENST00000572080.1:c.17_18delinsCG
NM_000152.3:c.1629_1630delinsCG , LRG_673t1:c.1629_1630delinsCG NP_000143.2:p.Tyr543=
NM_001079803.1:c.1629_1630delinsCG NP_001073271.1:p.Tyr543=
NM_001079804.1:c.1629_1630delinsCG NP_001073272.1:p.Tyr543=
XM_005257193.1:c.1629_1630delinsCG XP_005257250.1:p.Tyr543=
XM_005257194.3:c.1629_1630delinsCG XP_005257251.1:p.Tyr543=
NM_000152.4:c.1629_1630delinsCG NP_000143.2:p.Tyr543=
NM_001079803.2:c.1629_1630delinsCG NP_001073271.1:p.Tyr543=
NM_001079804.2:c.1629_1630delinsCG NP_001073272.1:p.Tyr543=
XM_005257193.2:c.1629_1630delinsCG XP_005257250.1:p.Tyr543=
XM_005257194.4:c.1629_1630delinsCG XP_005257251.1:p.Tyr543=
NM_000152.5:c.1629_1630delinsCG MANE Select NP_000143.2:p.Tyr543=
NM_001079803.3:c.1629_1630delinsCG NP_001073271.1:p.Tyr543=
NM_001079804.3:c.1629_1630delinsCG NP_001073272.1:p.Tyr543=
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