Canonical Allele Identifier: CA2277812857
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108606_80108628delinsTGGTGAGTTGGGGTGGTGGCAGG , CM000679.2:g.80108606_80108628delinsTGGTGAGTTGGGGTGGTGGCAGG GRCh38
NC_000017.10:g.78082405_78082427delinsTGGTGAGTTGGGGTGGTGGCAGG , CM000679.1:g.78082405_78082427delinsTGGTGAGTTGGGGTGGTGGCAGG GRCh37
NC_000017.9:g.75697000_75697022delinsTGGTGAGTTGGGGTGGTGGCAGG NCBI36
NG_009822.1:g.12051_12073delinsTGGTGAGTTGGGGTGGTGGCAGG , LRG_673:g.12051_12073delinsTGGTGAGTTGGGGTGGTGGCAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
ENST00000572080.2:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
ENST00000577106.6:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
ENST00000302262.8:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
ENST00000302262.7:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
ENST00000390015.7:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_000152.3:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG , LRG_673t1:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_001079803.1:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_001079804.1:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
XM_005257193.1:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
XM_005257194.3:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_000152.4:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_001079803.2:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_001079804.2:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
XM_005257193.2:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
XM_005257194.4:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_000152.5:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_001079803.3:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG
NM_001079804.3:c.1193_1194+21delinsTGGTGAGTTGGGGTGGTGGCAGG