Canonical Allele Identifier: CA658795295
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2143931034
gnomAD v4: 17-80118356-ATG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118359_80118360del , CM000679.2:g.80118359_80118360del GRCh38
NC_000017.10:g.78092158_78092159del , CM000679.1:g.78092158_78092159del GRCh37
NC_000017.9:g.75706753_75706754del NCBI36
NG_009822.1:g.21804_21805del , LRG_673:g.21804_21805del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2646+2_2646+3del
ENST00000572080.2:c.*784+2_*784+3del
ENST00000577106.6:c.2646+2_2646+3del
ENST00000302262.8:c.2646+2_2646+3del
ENST00000302262.7:c.2646+2_2646+3del
ENST00000390015.7:c.2646+2_2646+3del
ENST00000573556.1:n.599+2_599+3del
NM_000152.3:c.2646+2_2646+3del , LRG_673t1:c.2646+2_2646+3del
NM_001079803.1:c.2646+2_2646+3del
NM_001079804.1:c.2646+2_2646+3del
XM_005257193.1:c.2646+2_2646+3del
XM_005257194.3:c.2646+2_2646+3del
NM_000152.4:c.2646+2_2646+3del
NM_001079803.2:c.2646+2_2646+3del
NM_001079804.2:c.2646+2_2646+3del
XM_005257193.2:c.2646+2_2646+3del
XM_005257194.4:c.2646+2_2646+3del
NM_000152.5:c.2646+2_2646+3del
NM_001079803.3:c.2646+2_2646+3del
NM_001079804.3:c.2646+2_2646+3del
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