Canonical Allele Identifier: CA16620648
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 423932
ClinVar RCV Id: RCV000487249 RCV001265220
dbSNP Id: rs1064796706
MyVariant Identifiers: chr17:g.78087037del (hg19) chr17:g.80113238del (hg38)
ERepo: CA16620648/MONDO:0009290/010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113238del , CM000679.2:g.80113238del GRCh38
NC_000017.10:g.78087037del , CM000679.1:g.78087037del GRCh37
NC_000017.9:g.75701632del NCBI36
NG_009822.1:g.16683del , LRG_673:g.16683del

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.2061del ENSP00000460543.2:p.Phe687LeufsTer9
ENST00000572080.2:c.*199del ENSP00000459972.2:n.*199del
ENST00000577106.6:c.2061del ENSP00000458306.2:p.Phe687LeufsTer9
ENST00000302262.8:c.2061del MANE Select ENSP00000305692.3:p.Phe687LeufsTer9
ENST00000302262.7:c.2061del ENSP00000305692.3:p.Phe687LeufsTer9
ENST00000390015.7:c.2061del ENSP00000374665.3:p.Phe687LeufsTer9
ENST00000570716.1:n.501del
ENST00000572080.1:c.480del
NM_000152.3:c.2061del , LRG_673t1:c.2061del NP_000143.2:p.Phe687LeufsTer9
NM_001079803.1:c.2061del NP_001073271.1:p.Phe687LeufsTer9
NM_001079804.1:c.2061del NP_001073272.1:p.Phe687LeufsTer9
XM_005257193.1:c.2061del XP_005257250.1:p.Phe687LeufsTer9
XM_005257194.3:c.2061del XP_005257251.1:p.Phe687LeufsTer9
NM_000152.4:c.2061del NP_000143.2:p.Phe687LeufsTer9
NM_001079803.2:c.2061del NP_001073271.1:p.Phe687LeufsTer9
NM_001079804.2:c.2061del NP_001073272.1:p.Phe687LeufsTer9
XM_005257193.2:c.2061del XP_005257250.1:p.Phe687LeufsTer9
XM_005257194.4:c.2061del XP_005257251.1:p.Phe687LeufsTer9
NM_000152.5:c.2061del MANE Select NP_000143.2:p.Phe687LeufsTer9
NM_001079803.3:c.2061del NP_001073271.1:p.Phe687LeufsTer9
NM_001079804.3:c.2061del NP_001073272.1:p.Phe687LeufsTer9
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