Canonical Allele Identifier: CA10606113
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 288505
ClinVar RCV Id: RCV000410911 RCV000726173
dbSNP Id: rs886043920
MyVariant Identifiers: chr17:g.78081399del (hg19) chr17:g.80107600del (hg38)
ERepo: CA10606113/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80107600del , CM000679.2:g.80107600del GRCh38
NC_000017.10:g.78081399del , CM000679.1:g.78081399del GRCh37
NC_000017.9:g.75695994del NCBI36
NG_009822.1:g.11045del , LRG_673:g.11045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.736del ENSP00000460543.2:p.Leu246PhefsTer22
ENST00000572080.2:c.736del ENSP00000459972.2:p.Leu246PhefsTer22
ENST00000577106.6:c.736del ENSP00000458306.2:p.Leu246PhefsTer22
ENST00000302262.8:c.736del MANE Select ENSP00000305692.3:p.Leu246PhefsTer22
ENST00000302262.7:c.736del ENSP00000305692.3:p.Leu246PhefsTer22
ENST00000390015.7:c.736del ENSP00000374665.3:p.Leu246PhefsTer22
ENST00000570803.5:c.736del ENSP00000460543.1:p.Leu246PhefsTer22
NM_000152.3:c.736del , LRG_673t1:c.736del NP_000143.2:p.Leu246PhefsTer22
NM_001079803.1:c.736del NP_001073271.1:p.Leu246PhefsTer22
NM_001079804.1:c.736del NP_001073272.1:p.Leu246PhefsTer22
XM_005257193.1:c.736del XP_005257250.1:p.Leu246PhefsTer22
XM_005257194.3:c.736del XP_005257251.1:p.Leu246PhefsTer22
NM_000152.4:c.736del NP_000143.2:p.Leu246PhefsTer22
NM_001079803.2:c.736del NP_001073271.1:p.Leu246PhefsTer22
NM_001079804.2:c.736del NP_001073272.1:p.Leu246PhefsTer22
XM_005257193.2:c.736del XP_005257250.1:p.Leu246PhefsTer22
XM_005257194.4:c.736del XP_005257251.1:p.Leu246PhefsTer22
NM_000152.5:c.736del MANE Select NP_000143.2:p.Leu246PhefsTer22
NM_001079803.3:c.736del NP_001073271.1:p.Leu246PhefsTer22
NM_001079804.3:c.736del NP_001073272.1:p.Leu246PhefsTer22
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