Canonical Allele Identifier: CA658795223

Gene: GAA

Linked Data

• ClinVar Variation Id: 633223
• ClinVar RCV Id: RCV000781388

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104734_80107789del , CM000679.2:g.80104734_80107789del	GRCh38
NC_000017.10:g.78078533_78081588del , CM000679.1:g.78078533_78081588del	GRCh37
NC_000017.9:g.75693128_75696183del	NCBI36
NG_009822.1:g.8179_11234del , LRG_673:g.8179_11234del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.148_859-11del
ENST00000572080.2:c.148_859-11del
ENST00000577106.6:c.148_859-11del
ENST00000302262.8:c.148_859-11del
ENST00000302262.7:c.148_859-11del
ENST00000390015.7:c.148_859-11del
NM_000152.3:c.148_859-11del , LRG_673t1:c.148_859-11del
NM_001079803.1:c.148_859-11del
NM_001079804.1:c.148_859-11del
XM_005257193.1:c.148_859-11del
XM_005257194.3:c.148_859-11del
NM_000152.4:c.148_859-11del
NM_001079803.2:c.148_859-11del
NM_001079804.2:c.148_859-11del
XM_005257193.2:c.148_859-11del
XM_005257194.4:c.148_859-11del
NM_000152.5:c.148_859-11del
NM_001079803.3:c.148_859-11del
NM_001079804.3:c.148_859-11del