Canonical Allele Identifier: CA294895159
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs962521995
MyVariant Identifiers: chr17:g.78084937del (hg19) chr17:g.80111138del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80111141del , CM000679.2:g.80111141del GRCh38
NC_000017.10:g.78084940del , CM000679.1:g.78084940del GRCh37
NC_000017.9:g.75699535del NCBI36
NG_009822.1:g.14586del , LRG_673:g.14586del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1636+116del ENSP00000460543.2:n.1636+116del
ENST00000572080.2:c.1636+116del ENSP00000459972.2:n.1636+116del
ENST00000577106.6:c.1636+116del ENSP00000458306.2:n.1636+116del
ENST00000302262.8:c.1636+116del MANE Select ENSP00000305692.3:n.1636+116del
ENST00000302262.7:c.1636+116del ENSP00000305692.3:n.1636+116del
ENST00000390015.7:c.1636+116del ENSP00000374665.3:n.1636+116del
ENST00000572080.1:c.24+116del
NM_000152.3:c.1636+116del , LRG_673t1:c.1636+116del NP_000143.2:n.1636+116del
NM_001079803.1:c.1636+116del NP_001073271.1:n.1636+116del
NM_001079804.1:c.1636+116del NP_001073272.1:n.1636+116del
XM_005257193.1:c.1636+116del XP_005257250.1:n.1636+116del
XM_005257194.3:c.1636+116del XP_005257251.1:n.1636+116del
NM_000152.4:c.1636+116del NP_000143.2:n.1636+116del
NM_001079803.2:c.1636+116del NP_001073271.1:n.1636+116del
NM_001079804.2:c.1636+116del NP_001073272.1:n.1636+116del
XM_005257193.2:c.1636+116del XP_005257250.1:n.1636+116del
XM_005257194.4:c.1636+116del XP_005257251.1:n.1636+116del
NM_000152.5:c.1636+116del MANE Select NP_000143.2:n.1636+116del
NM_001079803.3:c.1636+116del NP_001073271.1:n.1636+116del
NM_001079804.3:c.1636+116del NP_001073272.1:n.1636+116del
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