Canonical Allele Identifier: CA628018721
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs1567841033
gnomAD v2: 17-78092589-CA-C
gnomAD v4: 17-80118790-CA-C
MyVariant Identifiers: chr17:g.78092590del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118791del , CM000679.2:g.80118791del GRCh38
NC_000017.10:g.78092590del , CM000679.1:g.78092590del GRCh37
NC_000017.9:g.75707185del NCBI36
NG_009822.1:g.22236del , LRG_673:g.22236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2785del ENSP00000460543.2:p.Ser929AlafsTer14
ENST00000572080.2:c.*923del ENSP00000459972.2:n.*923del
ENST00000577106.6:c.2785del ENSP00000458306.2:p.Ser929AlafsTer14
ENST00000302262.8:c.2785del MANE Select ENSP00000305692.3:p.Ser929AlafsTer14
ENST00000302262.7:c.2785del ENSP00000305692.3:p.Ser929AlafsTer14
ENST00000390015.7:c.2785del ENSP00000374665.3:p.Ser929AlafsTer14
ENST00000573556.1:n.738del
NM_000152.3:c.2785del , LRG_673t1:c.2785del NP_000143.2:p.Ser929AlafsTer14
NM_001079803.1:c.2785del NP_001073271.1:p.Ser929AlafsTer14
NM_001079804.1:c.2785del NP_001073272.1:p.Ser929AlafsTer14
XM_005257193.1:c.2785del XP_005257250.1:p.Ser929AlafsTer14
XM_005257194.3:c.2785del XP_005257251.1:p.Ser929AlafsTer14
NM_000152.4:c.2785del NP_000143.2:p.Ser929AlafsTer14
NM_001079803.2:c.2785del NP_001073271.1:p.Ser929AlafsTer14
NM_001079804.2:c.2785del NP_001073272.1:p.Ser929AlafsTer14
XM_005257193.2:c.2785del XP_005257250.1:p.Ser929AlafsTer14
XM_005257194.4:c.2785del XP_005257251.1:p.Ser929AlafsTer14
NM_000152.5:c.2785del MANE Select NP_000143.2:p.Ser929AlafsTer14
NM_001079803.3:c.2785del NP_001073271.1:p.Ser929AlafsTer14
NM_001079804.3:c.2785del NP_001073272.1:p.Ser929AlafsTer14
Search 100 bp 5'
Search 100 bp 3'