Canonical Allele Identifier: CA775518800
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs1423606888
gnomAD v4: 17-80113130-TGAG-T
MyVariant Identifiers: chr17:g.78086930_78086932del (hg19) chr17:g.80113131_80113133del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113131_80113133del , CM000679.2:g.80113131_80113133del GRCh38
NC_000017.10:g.78086930_78086932del , CM000679.1:g.78086930_78086932del GRCh37
NC_000017.9:g.75701525_75701527del NCBI36
NG_009822.1:g.16576_16578del , LRG_673:g.16576_16578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2041-87_2041-85del ENSP00000460543.2:n.2041-87_2041-85del
ENST00000572080.2:c.*179-87_*179-85del ENSP00000459972.2:n.*179-87_*179-85del
ENST00000577106.6:c.2041-87_2041-85del ENSP00000458306.2:n.2041-87_2041-85del
ENST00000302262.8:c.2041-87_2041-85del MANE Select ENSP00000305692.3:n.2041-87_2041-85del
ENST00000302262.7:c.2041-87_2041-85del ENSP00000305692.3:n.2041-87_2041-85del
ENST00000390015.7:c.2041-87_2041-85del ENSP00000374665.3:n.2041-87_2041-85del
ENST00000570716.1:n.481-87_481-85del
ENST00000572080.1:c.460-87_460-85del
NM_000152.3:c.2041-87_2041-85del , LRG_673t1:c.2041-87_2041-85del NP_000143.2:n.2041-87_2041-85del
NM_001079803.1:c.2041-87_2041-85del NP_001073271.1:n.2041-87_2041-85del
NM_001079804.1:c.2041-87_2041-85del NP_001073272.1:n.2041-87_2041-85del
XM_005257193.1:c.2041-87_2041-85del XP_005257250.1:n.2041-87_2041-85del
XM_005257194.3:c.2041-87_2041-85del XP_005257251.1:n.2041-87_2041-85del
NM_000152.4:c.2041-87_2041-85del NP_000143.2:n.2041-87_2041-85del
NM_001079803.2:c.2041-87_2041-85del NP_001073271.1:n.2041-87_2041-85del
NM_001079804.2:c.2041-87_2041-85del NP_001073272.1:n.2041-87_2041-85del
XM_005257193.2:c.2041-87_2041-85del XP_005257250.1:n.2041-87_2041-85del
XM_005257194.4:c.2041-87_2041-85del XP_005257251.1:n.2041-87_2041-85del
NM_000152.5:c.2041-87_2041-85del MANE Select NP_000143.2:n.2041-87_2041-85del
NM_001079803.3:c.2041-87_2041-85del NP_001073271.1:n.2041-87_2041-85del
NM_001079804.3:c.2041-87_2041-85del NP_001073272.1:n.2041-87_2041-85del
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