Canonical Allele Identifier: CA2697555214

Gene: GAA

Linked Data

• ClinVar Variation Id: 2745468
• ClinVar RCV Id: RCV003502327

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104170_80104729del , CM000679.2:g.80104170_80104729del	GRCh38
NC_000017.10:g.78077969_78078528del , CM000679.1:g.78077969_78078528del	GRCh37
NC_000017.9:g.75692564_75693123del	NCBI36
NG_009822.1:g.7615_8174del , LRG_673:g.7615_8174del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-32-385_143del
ENST00000572080.2:c.-32-385_143del
ENST00000577106.6:c.-32-385_143del
ENST00000302262.8:c.-32-385_143del
ENST00000302262.7:c.-32-385_143del
ENST00000390015.7:c.-32-385_143del
ENST00000570803.5:c.-32-385_143del
ENST00000577106.5:c.-32-385_143del
NM_000152.3:c.-32-385_143del , LRG_673t1:c.-32-385_143del
NM_001079803.1:c.-32-385_143del
NM_001079804.1:c.-32-385_143del
XM_005257193.1:c.-32-385_143del
XM_005257194.3:c.-32-385_143del
NM_000152.4:c.-32-385_143del
NM_001079803.2:c.-32-385_143del
NM_001079804.2:c.-32-385_143del
XM_005257193.2:c.-32-385_143del
XM_005257194.4:c.-32-385_143del
NM_000152.5:c.-32-385_143del
NM_001079803.3:c.-32-385_143del
NM_001079804.3:c.-32-385_143del