Canonical Allele Identifier: CA3267944118
Community Standard Title: NC_000017.11:g.80104786_80105906del
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104786_80105906del , CM000679.2:g.80104786_80105906del GRCh38
NC_000017.10:g.78078585_78079705del , CM000679.1:g.78078585_78079705del GRCh37
NC_000017.9:g.75693180_75694300del NCBI36
NG_009822.1:g.8231_9351del , LRG_673:g.8231_9351del

Transcript Alleles

HGVS Amino-acid Change
NM_000152.3:c.200_692+12del , LRG_673t1:c.200_692+12del
NM_000152.4:c.200_692+12del
NM_000152.5:c.200_692+12del
NM_001079803.1:c.200_692+12del
NM_001079803.2:c.200_692+12del
NM_001079803.3:c.200_692+12del
NM_001079804.1:c.200_692+12del
NM_001079804.2:c.200_692+12del
NM_001079804.3:c.200_692+12del
ENST00000302262.7:c.200_692+12del
ENST00000302262.8:c.200_692+12del
ENST00000390015.7:c.200_692+12del
ENST00000570803.5:c.200_692+12del
ENST00000570803.6:c.200_692+12del
ENST00000572080.2:c.200_692+12del
ENST00000577106.6:c.200_692+12del
XM_005257193.1:c.200_692+12del
XM_005257193.2:c.200_692+12del
XM_005257194.3:c.200_692+12del
XM_005257194.4:c.200_692+12del
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