Canonical Allele Identifier: CA913184762
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80112099_80118805del , CM000679.2:g.80112099_80118805del GRCh38
NC_000017.10:g.78085898_78092604del , CM000679.1:g.78085898_78092604del GRCh37
NC_000017.9:g.75700493_75707199del NCBI36
NG_009822.1:g.15544_22250del , LRG_673:g.15544_22250del

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.1753_2799del
ENST00000572080.2:c.1753_*937del
ENST00000577106.6:c.1753_2799del
ENST00000302262.8:c.1753_2799del
ENST00000302262.7:c.1753_2799del
ENST00000390015.7:c.1753_2799del
NM_000152.3:c.1753_2799del , LRG_673t1:c.1753_2799del
NM_001079803.1:c.1753_2799del
NM_001079804.1:c.1753_2799del
XM_005257193.1:c.1753_2799del
XM_005257194.3:c.1753_2799del
NM_000152.4:c.1753_2799del
NM_001079803.2:c.1753_2799del
NM_001079804.2:c.1753_2799del
XM_005257193.2:c.1753_2799del
XM_005257194.4:c.1753_2799del
NM_000152.5:c.1753_2799del
NM_001079803.3:c.1753_2799del
NM_001079804.3:c.1753_2799del