Canonical Allele Identifier: CA658795277
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113825_80119877del , CM000679.2:g.80113825_80119877del GRCh38
NC_000017.10:g.78087624_78093676del , CM000679.1:g.78087624_78093676del GRCh37
NC_000017.9:g.75702219_75708271del NCBI36
NG_009822.1:g.17270_23322del , LRG_673:g.17270_23322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000572080.2:c.*327+459_*1543del
ENST00000302262.8:c.2189+459_*546del
ENST00000302262.7:c.2189+459_*546del
ENST00000390015.7:c.2189+459_*546del
NM_000152.3:c.2189+459_*546del , LRG_673t1:c.2189+459_*546del
NM_001079803.1:c.2189+459_*546del
NM_001079804.1:c.2189+459_*546del
XM_005257193.1:c.2189+459_*546del
XM_005257194.3:c.2189+459_*546del
NM_000152.4:c.2189+459_*546del
NM_001079803.2:c.2189+459_*546del
NM_001079804.2:c.2189+459_*546del
XM_005257193.2:c.2189+459_*546del
XM_005257194.4:c.2189+459_*546del
NM_000152.5:c.2189+459_*546del
NM_001079803.3:c.2189+459_*546del
NM_001079804.3:c.2189+459_*546del
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