Canonical Allele Identifier: CA2640273883
Gene: GAA HGNC NCBI

Linked Data

gnomAD v4: 17-80104584-ACCATGGGAGTGAGGCACC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104586_80104603del , CM000679.2:g.80104586_80104603del GRCh38
NC_000017.10:g.78078385_78078402del , CM000679.1:g.78078385_78078402del GRCh37
NC_000017.9:g.75692980_75692997del NCBI36
NG_009822.1:g.8031_8048del , LRG_673:g.8031_8048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.-1_17del
ENST00000572080.2:c.-1_17del
ENST00000577106.6:c.-1_17del
ENST00000302262.8:c.-1_17del
ENST00000302262.7:c.-1_17del
ENST00000390015.7:c.-1_17del
ENST00000570803.5:c.-1_17del
ENST00000577106.5:c.-1_17del
NM_000152.3:c.-1_17del , LRG_673t1:c.-1_17del
NM_001079803.1:c.-1_17del
NM_001079804.1:c.-1_17del
XM_005257193.1:c.-1_17del
XM_005257194.3:c.-1_17del
NM_000152.4:c.-1_17del
NM_001079803.2:c.-1_17del
NM_001079804.2:c.-1_17del
XM_005257193.2:c.-1_17del
XM_005257194.4:c.-1_17del
NM_000152.5:c.-1_17del
NM_001079803.3:c.-1_17del
NM_001079804.3:c.-1_17del
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