Canonical Allele Identifier: CA913014073

Gene: GAA

Linked Data

• MyVariant Identifiers: chr17:g.78092449_78092452del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118650_80118653del , CM000679.2:g.80118650_80118653del	GRCh38
NC_000017.10:g.78092449_78092452del , CM000679.1:g.78092449_78092452del	GRCh37
NC_000017.9:g.75707044_75707047del	NCBI36
NG_009822.1:g.22095_22098del , LRG_673:g.22095_22098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2647-3_2647del
ENST00000572080.2:c.*785-3_*785del
ENST00000577106.6:c.2647-3_2647del
ENST00000302262.8:c.2647-3_2647del
ENST00000302262.7:c.2647-3_2647del
ENST00000390015.7:c.2647-3_2647del
ENST00000573556.1:n.600-3_600del
NM_000152.3:c.2647-3_2647del , LRG_673t1:c.2647-3_2647del
NM_001079803.1:c.2647-3_2647del
NM_001079804.1:c.2647-3_2647del
XM_005257193.1:c.2647-3_2647del
XM_005257194.3:c.2647-3_2647del
NM_000152.4:c.2647-3_2647del
NM_001079803.2:c.2647-3_2647del
NM_001079804.2:c.2647-3_2647del
XM_005257193.2:c.2647-3_2647del
XM_005257194.4:c.2647-3_2647del
NM_000152.5:c.2647-3_2647del
NM_001079803.3:c.2647-3_2647del
NM_001079804.3:c.2647-3_2647del