Canonical Allele Identifier: CA340127
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 4031
ClinVar RCV Id: RCV000004246
dbSNP Id: rs1555603048
MyVariant Identifiers: chr17:g.78091992_78092156del (hg19) chr17:g.80118193_80118357del (hg38)
PubMed: PMID:7717400 PMID:7881425 PMID:7945303 PMID:8990003 PMID:10737124 PMID:20301438
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118194_80118358del , CM000679.2:g.80118194_80118358del GRCh38
NC_000017.10:g.78091993_78092157del , CM000679.1:g.78091993_78092157del GRCh37
NC_000017.9:g.75706588_75706752del NCBI36
NG_009822.1:g.21639_21803del , LRG_673:g.21639_21803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2483_2646+1del
ENST00000572080.2:c.*621_*784+1del
ENST00000577106.6:c.2483_2646+1del
ENST00000302262.8:c.2483_2646+1del
ENST00000302262.7:c.2483_2646+1del
ENST00000390015.7:c.2483_2646+1del
ENST00000573556.1:n.436_599+1del
NM_000152.3:c.2483_2646+1del , LRG_673t1:c.2483_2646+1del
NM_001079803.1:c.2483_2646+1del
NM_001079804.1:c.2483_2646+1del
XM_005257193.1:c.2483_2646+1del
XM_005257194.3:c.2483_2646+1del
NM_000152.4:c.2483_2646+1del
NM_001079803.2:c.2483_2646+1del
NM_001079804.2:c.2483_2646+1del
XM_005257193.2:c.2483_2646+1del
XM_005257194.4:c.2483_2646+1del
NM_000152.5:c.2483_2646+1del
NM_001079803.3:c.2483_2646+1del
NM_001079804.3:c.2483_2646+1del
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