Canonical Allele Identifier: CA3267944116
Community Standard Title: NC_000017.11:g.80104620_80105905del
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104620_80105905del , CM000679.2:g.80104620_80105905del GRCh38
NC_000017.10:g.78078419_78079704del , CM000679.1:g.78078419_78079704del GRCh37
NC_000017.9:g.75693014_75694299del NCBI36
NG_009822.1:g.8065_9350del , LRG_673:g.8065_9350del

Transcript Alleles

HGVS Amino-acid Change
NM_000152.3:c.34_692+11del , LRG_673t1:c.34_692+11del
NM_000152.4:c.34_692+11del
NM_000152.5:c.34_692+11del
NM_001079803.1:c.34_692+11del
NM_001079803.2:c.34_692+11del
NM_001079803.3:c.34_692+11del
NM_001079804.1:c.34_692+11del
NM_001079804.2:c.34_692+11del
NM_001079804.3:c.34_692+11del
ENST00000302262.7:c.34_692+11del
ENST00000302262.8:c.34_692+11del
ENST00000390015.7:c.34_692+11del
ENST00000570803.5:c.34_692+11del
ENST00000570803.6:c.34_692+11del
ENST00000572080.2:c.34_692+11del
ENST00000577106.6:c.34_692+11del
XM_005257193.1:c.34_692+11del
XM_005257193.2:c.34_692+11del
XM_005257194.3:c.34_692+11del
XM_005257194.4:c.34_692+11del
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