Canonical Allele Identifier: CA2573054598
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1322969
ClinVar RCV Id: RCV001785858
dbSNP Id: rs2143823499
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104589_80104590delinsTT , CM000679.2:g.80104589_80104590delinsTT GRCh38
NC_000017.10:g.78078388_78078389delinsTT , CM000679.1:g.78078388_78078389delinsTT GRCh37
NC_000017.9:g.75692983_75692984delinsTT NCBI36
NG_009822.1:g.8034_8035delinsTT , LRG_673:g.8034_8035delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.3_4delinsTT ENSP00000460543.2:p.Met1IlefsTer2
ENST00000572080.2:c.3_4delinsTT ENSP00000459972.2:p.Met1IlefsTer2
ENST00000577106.6:c.3_4delinsTT ENSP00000458306.2:p.Met1IlefsTer2
ENST00000302262.8:c.3_4delinsTT MANE Select ENSP00000305692.3:p.Met1IlefsTer2
ENST00000302262.7:c.3_4delinsTT ENSP00000305692.3:p.Met1IlefsTer2
ENST00000390015.7:c.3_4delinsTT ENSP00000374665.3:p.Met1IlefsTer2
ENST00000570803.5:c.3_4delinsTT ENSP00000460543.1:p.Met1IlefsTer2
ENST00000577106.5:c.3_4delinsTT ENSP00000458306.1:p.Met1IlefsTer2
NM_000152.3:c.3_4delinsTT , LRG_673t1:c.3_4delinsTT NP_000143.2:p.Met1IlefsTer2
NM_001079803.1:c.3_4delinsTT NP_001073271.1:p.Met1IlefsTer2
NM_001079804.1:c.3_4delinsTT NP_001073272.1:p.Met1IlefsTer2
XM_005257193.1:c.3_4delinsTT XP_005257250.1:p.Met1IlefsTer2
XM_005257194.3:c.3_4delinsTT XP_005257251.1:p.Met1IlefsTer2
NM_000152.4:c.3_4delinsTT NP_000143.2:p.Met1IlefsTer2
NM_001079803.2:c.3_4delinsTT NP_001073271.1:p.Met1IlefsTer2
NM_001079804.2:c.3_4delinsTT NP_001073272.1:p.Met1IlefsTer2
XM_005257193.2:c.3_4delinsTT XP_005257250.1:p.Met1IlefsTer2
XM_005257194.4:c.3_4delinsTT XP_005257251.1:p.Met1IlefsTer2
NM_000152.5:c.3_4delinsTT MANE Select NP_000143.2:p.Met1IlefsTer2
NM_001079803.3:c.3_4delinsTT NP_001073271.1:p.Met1IlefsTer2
NM_001079804.3:c.3_4delinsTT NP_001073272.1:p.Met1IlefsTer2
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