Canonical Allele Identifier: CA10654926

Gene: GAA

Linked Data

• ClinVar Variation Id: 369943
• ClinVar RCV Id: RCV000408768
• MyVariant Identifiers: chr17:g.78085284_78092477del (hg19) ; chr17:g.80111485_80118678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80111485_80118678del , CM000679.2:g.80111485_80118678del	GRCh38
NC_000017.10:g.78085284_78092477del , CM000679.1:g.78085284_78092477del	GRCh37
NC_000017.9:g.75699879_75707072del	NCBI36
NG_009822.1:g.14930_22123del , LRG_673:g.14930_22123del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1636+460_2672del
ENST00000572080.2:c.1636+460_*810del
ENST00000577106.6:c.1636+460_2672del
ENST00000302262.8:c.1636+460_2672del
ENST00000302262.7:c.1636+460_2672del
ENST00000390015.7:c.1636+460_2672del
NM_000152.3:c.1636+460_2672del , LRG_673t1:c.1636+460_2672del
NM_001079803.1:c.1636+460_2672del
NM_001079804.1:c.1636+460_2672del
XM_005257193.1:c.1636+460_2672del
XM_005257194.3:c.1636+460_2672del
NM_000152.4:c.1636+460_2672del
NM_001079803.2:c.1636+460_2672del
NM_001079804.2:c.1636+460_2672del
XM_005257193.2:c.1636+460_2672del
XM_005257194.4:c.1636+460_2672del
NM_000152.5:c.1636+460_2672del
NM_001079803.3:c.1636+460_2672del
NM_001079804.3:c.1636+460_2672del