Canonical Allele Identifier: CA2810576509

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108609_80108697del , CM000679.2:g.80108609_80108697del	GRCh38
NC_000017.10:g.78082408_78082496del , CM000679.1:g.78082408_78082496del	GRCh37
NC_000017.9:g.75697003_75697091del	NCBI36
NG_009822.1:g.12054_12142del , LRG_673:g.12054_12142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1194+2_1195del
ENST00000572080.2:c.1194+2_1195del
ENST00000577106.6:c.1194+2_1195del
ENST00000302262.8:c.1194+2_1195del
ENST00000302262.7:c.1194+2_1195del
ENST00000390015.7:c.1194+2_1195del
NM_000152.3:c.1194+2_1195del , LRG_673t1:c.1194+2_1195del
NM_001079803.1:c.1194+2_1195del
NM_001079804.1:c.1194+2_1195del
XM_005257193.1:c.1194+2_1195del
XM_005257194.3:c.1194+2_1195del
NM_000152.4:c.1194+2_1195del
NM_001079803.2:c.1194+2_1195del
NM_001079804.2:c.1194+2_1195del
XM_005257193.2:c.1194+2_1195del
XM_005257194.4:c.1194+2_1195del
NM_000152.5:c.1194+2_1195del
NM_001079803.3:c.1194+2_1195del
NM_001079804.3:c.1194+2_1195del