Canonical Allele Identifier: CA3260672447
Community Standard Title: NC_000017.11:g.80104542_80105914del
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104542_80105914del , CM000679.2:g.80104542_80105914del GRCh38
NC_000017.10:g.78078341_78079713del , CM000679.1:g.78078341_78079713del GRCh37
NC_000017.9:g.75692936_75694308del NCBI36
NG_009822.1:g.7987_9359del , LRG_673:g.7987_9359del

Transcript Alleles

HGVS Amino-acid Change
NM_000152.3:c.-32-13_692+20del , LRG_673t1:c.-32-13_692+20del
NM_000152.4:c.-32-13_692+20del
NM_000152.5:c.-32-13_692+20del
NM_001079803.1:c.-32-13_692+20del
NM_001079803.2:c.-32-13_692+20del
NM_001079803.3:c.-32-13_692+20del
NM_001079804.1:c.-32-13_692+20del
NM_001079804.2:c.-32-13_692+20del
NM_001079804.3:c.-32-13_692+20del
ENST00000302262.7:c.-32-13_692+20del
ENST00000302262.8:c.-32-13_692+20del
ENST00000390015.7:c.-32-13_692+20del
ENST00000570803.5:c.-32-13_692+20del
ENST00000570803.6:c.-32-13_692+20del
ENST00000572080.2:c.-32-13_692+20del
ENST00000577106.6:c.-32-13_692+20del
XM_005257193.1:c.-32-13_692+20del
XM_005257193.2:c.-32-13_692+20del
XM_005257194.3:c.-32-13_692+20del
XM_005257194.4:c.-32-13_692+20del
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