Canonical Allele Identifier: CA658795244

Gene: GAA

Linked Data

• ClinVar Variation Id: 632821
• ClinVar RCV Id: RCV000780267

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108678_80116951del , CM000679.2:g.80108678_80116951del	GRCh38
NC_000017.10:g.78082477_78090750del , CM000679.1:g.78082477_78090750del	GRCh37
NC_000017.9:g.75697072_75705345del	NCBI36
NG_009822.1:g.12123_20396del , LRG_673:g.12123_20396del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1195-19_2190-17del
ENST00000572080.2:c.1195-19_*328-17del
ENST00000577106.6:c.1195-19_2190-17del
ENST00000302262.8:c.1195-19_2190-17del
ENST00000302262.7:c.1195-19_2190-17del
ENST00000390015.7:c.1195-19_2190-17del
NM_000152.3:c.1195-19_2190-17del , LRG_673t1:c.1195-19_2190-17del
NM_001079803.1:c.1195-19_2190-17del
NM_001079804.1:c.1195-19_2190-17del
XM_005257193.1:c.1195-19_2190-17del
XM_005257194.3:c.1195-19_2190-17del
NM_000152.4:c.1195-19_2190-17del
NM_001079803.2:c.1195-19_2190-17del
NM_001079804.2:c.1195-19_2190-17del
XM_005257193.2:c.1195-19_2190-17del
XM_005257194.4:c.1195-19_2190-17del
NM_000152.5:c.1195-19_2190-17del
NM_001079803.3:c.1195-19_2190-17del
NM_001079804.3:c.1195-19_2190-17del