Canonical Allele Identifier: CA2277810517
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104574_80104600delinsGCCATCTCCAACCATGGGAGTGAGGCA , CM000679.2:g.80104574_80104600delinsGCCATCTCCAACCATGGGAGTGAGGCA GRCh38
NC_000017.10:g.78078373_78078399delinsGCCATCTCCAACCATGGGAGTGAGGCA , CM000679.1:g.78078373_78078399delinsGCCATCTCCAACCATGGGAGTGAGGCA GRCh37
NC_000017.9:g.75692968_75692994delinsGCCATCTCCAACCATGGGAGTGAGGCA NCBI36
NG_009822.1:g.8019_8045delinsGCCATCTCCAACCATGGGAGTGAGGCA , LRG_673:g.8019_8045delinsGCCATCTCCAACCATGGGAGTGAGGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
ENST00000572080.2:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
ENST00000577106.6:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
ENST00000302262.8:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
ENST00000302262.7:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
ENST00000390015.7:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
ENST00000570803.5:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
ENST00000577106.5:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_000152.3:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA , LRG_673t1:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_001079803.1:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_001079804.1:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
XM_005257193.1:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
XM_005257194.3:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_000152.4:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_001079803.2:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_001079804.2:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
XM_005257193.2:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
XM_005257194.4:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_000152.5:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_001079803.3:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA
NM_001079804.3:c.-13_14delinsGCCATCTCCAACCATGGGAGTGAGGCA