Canonical Allele Identifier: CA2576660787

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105134_80105157del , CM000679.2:g.80105134_80105157del	GRCh38
NC_000017.10:g.78078933_78078956del , CM000679.1:g.78078933_78078956del	GRCh37
NC_000017.9:g.75693528_75693551del	NCBI36
NG_009822.1:g.8579_8602del , LRG_673:g.8579_8602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.546+2_546+25del
ENST00000572080.2:c.546+2_546+25del
ENST00000577106.6:c.546+2_546+25del
ENST00000302262.8:c.546+2_546+25del
ENST00000302262.7:c.546+2_546+25del
ENST00000390015.7:c.546+2_546+25del
ENST00000570803.5:c.546+2_546+25del
ENST00000577106.5:c.546+2_546+25del
NM_000152.3:c.546+2_546+25del , LRG_673t1:c.546+2_546+25del
NM_001079803.1:c.546+2_546+25del
NM_001079804.1:c.546+2_546+25del
XM_005257193.1:c.546+2_546+25del
XM_005257194.3:c.546+2_546+25del
NM_000152.4:c.546+2_546+25del
NM_001079803.2:c.546+2_546+25del
NM_001079804.2:c.546+2_546+25del
XM_005257193.2:c.546+2_546+25del
XM_005257194.4:c.546+2_546+25del
NM_000152.5:c.546+2_546+25del
NM_001079803.3:c.546+2_546+25del
NM_001079804.3:c.546+2_546+25del