Canonical Allele Identifier: CA2277812924
Gene: GAA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108699_80108700delinsCG , CM000679.2:g.80108699_80108700delinsCG GRCh38
NC_000017.10:g.78082498_78082499delinsCG , CM000679.1:g.78082498_78082499delinsCG GRCh37
NC_000017.9:g.75697093_75697094delinsCG NCBI36
NG_009822.1:g.12144_12145delinsCG , LRG_673:g.12144_12145delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1197_1198delinsCG ENSP00000460543.2:p.Asp399=
ENST00000572080.2:c.1197_1198delinsCG ENSP00000459972.2:p.Asp399=
ENST00000577106.6:c.1197_1198delinsCG ENSP00000458306.2:p.Asp399=
ENST00000302262.8:c.1197_1198delinsCG MANE Select ENSP00000305692.3:p.Asp399=
ENST00000302262.7:c.1197_1198delinsCG ENSP00000305692.3:p.Asp399=
ENST00000390015.7:c.1197_1198delinsCG ENSP00000374665.3:p.Asp399=
NM_000152.3:c.1197_1198delinsCG , LRG_673t1:c.1197_1198delinsCG NP_000143.2:p.Asp399=
NM_001079803.1:c.1197_1198delinsCG NP_001073271.1:p.Asp399=
NM_001079804.1:c.1197_1198delinsCG NP_001073272.1:p.Asp399=
XM_005257193.1:c.1197_1198delinsCG XP_005257250.1:p.Asp399=
XM_005257194.3:c.1197_1198delinsCG XP_005257251.1:p.Asp399=
NM_000152.4:c.1197_1198delinsCG NP_000143.2:p.Asp399=
NM_001079803.2:c.1197_1198delinsCG NP_001073271.1:p.Asp399=
NM_001079804.2:c.1197_1198delinsCG NP_001073272.1:p.Asp399=
XM_005257193.2:c.1197_1198delinsCG XP_005257250.1:p.Asp399=
XM_005257194.4:c.1197_1198delinsCG XP_005257251.1:p.Asp399=
NM_000152.5:c.1197_1198delinsCG MANE Select NP_000143.2:p.Asp399=
NM_001079803.3:c.1197_1198delinsCG NP_001073271.1:p.Asp399=
NM_001079804.3:c.1197_1198delinsCG NP_001073272.1:p.Asp399=
Search 100 bp 5'
Search 100 bp 3'