Canonical Allele Identifier: CA2277812792
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108511_80108512delinsCT , CM000679.2:g.80108511_80108512delinsCT GRCh38
NC_000017.10:g.78082310_78082311delinsCT , CM000679.1:g.78082310_78082311delinsCT GRCh37
NC_000017.9:g.75696905_75696906delinsCT NCBI36
NG_009822.1:g.11956_11957delinsCT , LRG_673:g.11956_11957delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1098_1099delinsCT ENSP00000460543.2:p.Tyr366=
ENST00000572080.2:c.1098_1099delinsCT ENSP00000459972.2:p.Tyr366=
ENST00000577106.6:c.1098_1099delinsCT ENSP00000458306.2:p.Tyr366=
ENST00000302262.8:c.1098_1099delinsCT MANE Select ENSP00000305692.3:p.Tyr366=
ENST00000302262.7:c.1098_1099delinsCT ENSP00000305692.3:p.Tyr366=
ENST00000390015.7:c.1098_1099delinsCT ENSP00000374665.3:p.Tyr366=
NM_000152.3:c.1098_1099delinsCT , LRG_673t1:c.1098_1099delinsCT NP_000143.2:p.Tyr366=
NM_001079803.1:c.1098_1099delinsCT NP_001073271.1:p.Tyr366=
NM_001079804.1:c.1098_1099delinsCT NP_001073272.1:p.Tyr366=
XM_005257193.1:c.1098_1099delinsCT XP_005257250.1:p.Tyr366=
XM_005257194.3:c.1098_1099delinsCT XP_005257251.1:p.Tyr366=
NM_000152.4:c.1098_1099delinsCT NP_000143.2:p.Tyr366=
NM_001079803.2:c.1098_1099delinsCT NP_001073271.1:p.Tyr366=
NM_001079804.2:c.1098_1099delinsCT NP_001073272.1:p.Tyr366=
XM_005257193.2:c.1098_1099delinsCT XP_005257250.1:p.Tyr366=
XM_005257194.4:c.1098_1099delinsCT XP_005257251.1:p.Tyr366=
NM_000152.5:c.1098_1099delinsCT MANE Select NP_000143.2:p.Tyr366=
NM_001079803.3:c.1098_1099delinsCT NP_001073271.1:p.Tyr366=
NM_001079804.3:c.1098_1099delinsCT NP_001073272.1:p.Tyr366=
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