Canonical Allele Identifier: CA2277818281
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2039421570
gnomAD v4: 17-80118899-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118902_80118903del , CM000679.2:g.80118902_80118903del GRCh38
NC_000017.10:g.78092701_78092702del , CM000679.1:g.78092701_78092702del GRCh37
NC_000017.9:g.75707296_75707297del NCBI36
NG_009822.1:g.22347_22348del , LRG_673:g.22347_22348del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2799+97_2799+98del ENSP00000460543.2:n.2799+97_2799+98del
ENST00000572080.2:c.*937+97_*937+98del ENSP00000459972.2:n.*937+97_*937+98del
ENST00000577106.6:c.2799+97_2799+98del ENSP00000458306.2:n.2799+97_2799+98del
ENST00000302262.8:c.2799+97_2799+98del MANE Select ENSP00000305692.3:n.2799+97_2799+98del
ENST00000302262.7:c.2799+97_2799+98del ENSP00000305692.3:n.2799+97_2799+98del
ENST00000390015.7:c.2799+97_2799+98del ENSP00000374665.3:n.2799+97_2799+98del
ENST00000573556.1:n.752+97_752+98del
NM_000152.3:c.2799+97_2799+98del , LRG_673t1:c.2799+97_2799+98del NP_000143.2:n.2799+97_2799+98del
NM_001079803.1:c.2799+97_2799+98del NP_001073271.1:n.2799+97_2799+98del
NM_001079804.1:c.2799+97_2799+98del NP_001073272.1:n.2799+97_2799+98del
XM_005257193.1:c.2799+97_2799+98del XP_005257250.1:n.2799+97_2799+98del
XM_005257194.3:c.2799+97_2799+98del XP_005257251.1:n.2799+97_2799+98del
NM_000152.4:c.2799+97_2799+98del NP_000143.2:n.2799+97_2799+98del
NM_001079803.2:c.2799+97_2799+98del NP_001073271.1:n.2799+97_2799+98del
NM_001079804.2:c.2799+97_2799+98del NP_001073272.1:n.2799+97_2799+98del
XM_005257193.2:c.2799+97_2799+98del XP_005257250.1:n.2799+97_2799+98del
XM_005257194.4:c.2799+97_2799+98del XP_005257251.1:n.2799+97_2799+98del
NM_000152.5:c.2799+97_2799+98del MANE Select NP_000143.2:n.2799+97_2799+98del
NM_001079803.3:c.2799+97_2799+98del NP_001073271.1:n.2799+97_2799+98del
NM_001079804.3:c.2799+97_2799+98del NP_001073272.1:n.2799+97_2799+98del
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