Canonical Allele Identifier: CA913014067
Gene: GAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.78090875_78090876del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117076_80117077del , CM000679.2:g.80117076_80117077del GRCh38
NC_000017.10:g.78090875_78090876del , CM000679.1:g.78090875_78090876del GRCh37
NC_000017.9:g.75705470_75705471del NCBI36
NG_009822.1:g.20521_20522del , LRG_673:g.20521_20522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2298_2299del ENSP00000460543.2:p.Phe767ProfsTer28
ENST00000572080.2:c.*436_*437del ENSP00000459972.2:n.*436_*437del
ENST00000577106.6:c.2298_2299del ENSP00000458306.2:p.Phe767ProfsTer28
ENST00000302262.8:c.2298_2299del MANE Select ENSP00000305692.3:p.Phe767ProfsTer28
ENST00000302262.7:c.2298_2299del ENSP00000305692.3:p.Phe767ProfsTer28
ENST00000390015.7:c.2298_2299del ENSP00000374665.3:p.Phe767ProfsTer28
ENST00000572080.1:c.717_718del
ENST00000573556.1:n.251_252del
NM_000152.3:c.2298_2299del , LRG_673t1:c.2298_2299del NP_000143.2:p.Phe767ProfsTer28
NM_001079803.1:c.2298_2299del NP_001073271.1:p.Phe767ProfsTer28
NM_001079804.1:c.2298_2299del NP_001073272.1:p.Phe767ProfsTer28
XM_005257193.1:c.2298_2299del XP_005257250.1:p.Phe767ProfsTer28
XM_005257194.3:c.2298_2299del XP_005257251.1:p.Phe767ProfsTer28
NM_000152.4:c.2298_2299del NP_000143.2:p.Phe767ProfsTer28
NM_001079803.2:c.2298_2299del NP_001073271.1:p.Phe767ProfsTer28
NM_001079804.2:c.2298_2299del NP_001073272.1:p.Phe767ProfsTer28
XM_005257193.2:c.2298_2299del XP_005257250.1:p.Phe767ProfsTer28
XM_005257194.4:c.2298_2299del XP_005257251.1:p.Phe767ProfsTer28
NM_000152.5:c.2298_2299del MANE Select NP_000143.2:p.Phe767ProfsTer28
NM_001079803.3:c.2298_2299del NP_001073271.1:p.Phe767ProfsTer28
NM_001079804.3:c.2298_2299del NP_001073272.1:p.Phe767ProfsTer28
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