Canonical Allele Identifier: CA627699652
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs1178542349
gnomAD v2: 17-78084865-CAG-C
gnomAD v4: 17-80111066-CAG-C
MyVariant Identifiers: chr17:g.78084866_78084867del (hg19) chr17:g.80111067_80111068del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80111070_80111071del , CM000679.2:g.80111070_80111071del GRCh38
NC_000017.10:g.78084869_78084870del , CM000679.1:g.78084869_78084870del GRCh37
NC_000017.9:g.75699464_75699465del NCBI36
NG_009822.1:g.14515_14516del , LRG_673:g.14515_14516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1636+45_1636+46del ENSP00000460543.2:n.1636+45_1636+46del
ENST00000572080.2:c.1636+45_1636+46del ENSP00000459972.2:n.1636+45_1636+46del
ENST00000577106.6:c.1636+45_1636+46del ENSP00000458306.2:n.1636+45_1636+46del
ENST00000302262.8:c.1636+45_1636+46del MANE Select ENSP00000305692.3:n.1636+45_1636+46del
ENST00000302262.7:c.1636+45_1636+46del ENSP00000305692.3:n.1636+45_1636+46del
ENST00000390015.7:c.1636+45_1636+46del ENSP00000374665.3:n.1636+45_1636+46del
ENST00000572080.1:c.24+45_24+46del
NM_000152.3:c.1636+45_1636+46del , LRG_673t1:c.1636+45_1636+46del NP_000143.2:n.1636+45_1636+46del
NM_001079803.1:c.1636+45_1636+46del NP_001073271.1:n.1636+45_1636+46del
NM_001079804.1:c.1636+45_1636+46del NP_001073272.1:n.1636+45_1636+46del
XM_005257193.1:c.1636+45_1636+46del XP_005257250.1:n.1636+45_1636+46del
XM_005257194.3:c.1636+45_1636+46del XP_005257251.1:n.1636+45_1636+46del
NM_000152.4:c.1636+45_1636+46del NP_000143.2:n.1636+45_1636+46del
NM_001079803.2:c.1636+45_1636+46del NP_001073271.1:n.1636+45_1636+46del
NM_001079804.2:c.1636+45_1636+46del NP_001073272.1:n.1636+45_1636+46del
XM_005257193.2:c.1636+45_1636+46del XP_005257250.1:n.1636+45_1636+46del
XM_005257194.4:c.1636+45_1636+46del XP_005257251.1:n.1636+45_1636+46del
NM_000152.5:c.1636+45_1636+46del MANE Select NP_000143.2:n.1636+45_1636+46del
NM_001079803.3:c.1636+45_1636+46del NP_001073271.1:n.1636+45_1636+46del
NM_001079804.3:c.1636+45_1636+46del NP_001073272.1:n.1636+45_1636+46del
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