Canonical Allele Identifier: CA2640286107
Gene: GAA HGNC NCBI

Linked Data

gnomAD v4: 17-80108556-C-CTAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108556_80108557insTAG , CM000679.2:g.80108556_80108557insTAG GRCh38
NC_000017.10:g.78082355_78082356insTAG , CM000679.1:g.78082355_78082356insTAG GRCh37
NC_000017.9:g.75696950_75696951insTAG NCBI36
NG_009822.1:g.12001_12002insTAG , LRG_673:g.12001_12002insTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1143_1144insTAG
ENST00000572080.2:c.1143_1144insTAG
ENST00000577106.6:c.1143_1144insTAG
ENST00000302262.8:c.1143_1144insTAG
ENST00000302262.7:c.1143_1144insTAG
ENST00000390015.7:c.1143_1144insTAG
NM_000152.3:c.1143_1144insTAG , LRG_673t1:c.1143_1144insTAG
NM_001079803.1:c.1143_1144insTAG
NM_001079804.1:c.1143_1144insTAG
XM_005257193.1:c.1143_1144insTAG
XM_005257194.3:c.1143_1144insTAG
NM_000152.4:c.1143_1144insTAG
NM_001079803.2:c.1143_1144insTAG
NM_001079804.2:c.1143_1144insTAG
XM_005257193.2:c.1143_1144insTAG
XM_005257194.4:c.1143_1144insTAG
NM_000152.5:c.1143_1144insTAG
NM_001079803.3:c.1143_1144insTAG
NM_001079804.3:c.1143_1144insTAG
Search 100 bp 5'
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