Canonical Allele Identifier: CA2277818150
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118650_80118653delinsCAGA , CM000679.2:g.80118650_80118653delinsCAGA GRCh38
NC_000017.10:g.78092449_78092452delinsCAGA , CM000679.1:g.78092449_78092452delinsCAGA GRCh37
NC_000017.9:g.75707044_75707047delinsCAGA NCBI36
NG_009822.1:g.22095_22098delinsCAGA , LRG_673:g.22095_22098delinsCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2647-3_2647delinsCAGA
ENST00000572080.2:c.*785-3_*785delinsCAGA
ENST00000577106.6:c.2647-3_2647delinsCAGA
ENST00000302262.8:c.2647-3_2647delinsCAGA
ENST00000302262.7:c.2647-3_2647delinsCAGA
ENST00000390015.7:c.2647-3_2647delinsCAGA
ENST00000573556.1:n.600-3_600delinsCAGA
NM_000152.3:c.2647-3_2647delinsCAGA , LRG_673t1:c.2647-3_2647delinsCAGA
NM_001079803.1:c.2647-3_2647delinsCAGA
NM_001079804.1:c.2647-3_2647delinsCAGA
XM_005257193.1:c.2647-3_2647delinsCAGA
XM_005257194.3:c.2647-3_2647delinsCAGA
NM_000152.4:c.2647-3_2647delinsCAGA
NM_001079803.2:c.2647-3_2647delinsCAGA
NM_001079804.2:c.2647-3_2647delinsCAGA
XM_005257193.2:c.2647-3_2647delinsCAGA
XM_005257194.4:c.2647-3_2647delinsCAGA
NM_000152.5:c.2647-3_2647delinsCAGA
NM_001079803.3:c.2647-3_2647delinsCAGA
NM_001079804.3:c.2647-3_2647delinsCAGA