Canonical Allele Identifier: CA658658713
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456391
ClinVar RCV Id: RCV000525765 RCV001507905
dbSNP Id: rs1555601773
ERepo: CA658658713/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113309_80113310delinsGG , CM000679.2:g.80113309_80113310delinsGG GRCh38
NC_000017.10:g.78087108_78087109delinsGG , CM000679.1:g.78087108_78087109delinsGG GRCh37
NC_000017.9:g.75701703_75701704delinsGG NCBI36
NG_009822.1:g.16754_16755delinsGG , LRG_673:g.16754_16755delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2132_2133delinsGG ENSP00000460543.2:p.Thr711Arg
ENST00000572080.2:c.*270_*271delinsGG ENSP00000459972.2:n.*270_*271delinsGG
ENST00000577106.6:c.2132_2133delinsGG ENSP00000458306.2:p.Thr711Arg
ENST00000302262.8:c.2132_2133delinsGG MANE Select ENSP00000305692.3:p.Thr711Arg
ENST00000302262.7:c.2132_2133delinsGG ENSP00000305692.3:p.Thr711Arg
ENST00000390015.7:c.2132_2133delinsGG ENSP00000374665.3:p.Thr711Arg
ENST00000572080.1:c.551_552delinsGG
NM_000152.3:c.2132_2133delinsGG , LRG_673t1:c.2132_2133delinsGG NP_000143.2:p.Thr711Arg
NM_001079803.1:c.2132_2133delinsGG NP_001073271.1:p.Thr711Arg
NM_001079804.1:c.2132_2133delinsGG NP_001073272.1:p.Thr711Arg
XM_005257193.1:c.2132_2133delinsGG XP_005257250.1:p.Thr711Arg
XM_005257194.3:c.2132_2133delinsGG XP_005257251.1:p.Thr711Arg
NM_000152.4:c.2132_2133delinsGG NP_000143.2:p.Thr711Arg
NM_001079803.2:c.2132_2133delinsGG NP_001073271.1:p.Thr711Arg
NM_001079804.2:c.2132_2133delinsGG NP_001073272.1:p.Thr711Arg
XM_005257193.2:c.2132_2133delinsGG XP_005257250.1:p.Thr711Arg
XM_005257194.4:c.2132_2133delinsGG XP_005257251.1:p.Thr711Arg
NM_000152.5:c.2132_2133delinsGG MANE Select NP_000143.2:p.Thr711Arg
NM_001079803.3:c.2132_2133delinsGG NP_001073271.1:p.Thr711Arg
NM_001079804.3:c.2132_2133delinsGG NP_001073272.1:p.Thr711Arg
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