Canonical Allele Identifier: CA913014093
Gene: GAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.78082375_78082376del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108576_80108577del , CM000679.2:g.80108576_80108577del GRCh38
NC_000017.10:g.78082375_78082376del , CM000679.1:g.78082375_78082376del GRCh37
NC_000017.9:g.75696970_75696971del NCBI36
NG_009822.1:g.12021_12022del , LRG_673:g.12021_12022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1163_1164del ENSP00000460543.2:p.Val388GlyfsTer?
ENST00000572080.2:c.1163_1164del ENSP00000459972.2:p.Val388GlyfsTer?
ENST00000577106.6:c.1163_1164del ENSP00000458306.2:p.Val388GlyfsTer?
ENST00000302262.8:c.1163_1164del MANE Select ENSP00000305692.3:p.Val388GlyfsTer?
ENST00000302262.7:c.1163_1164del ENSP00000305692.3:p.Val388GlyfsTer?
ENST00000390015.7:c.1163_1164del ENSP00000374665.3:p.Val388GlyfsTer?
NM_000152.3:c.1163_1164del , LRG_673t1:c.1163_1164del NP_000143.2:p.Val388GlyfsTer?
NM_001079803.1:c.1163_1164del NP_001073271.1:p.Val388GlyfsTer?
NM_001079804.1:c.1163_1164del NP_001073272.1:p.Val388GlyfsTer?
XM_005257193.1:c.1163_1164del XP_005257250.1:p.Val388GlyfsTer?
XM_005257194.3:c.1163_1164del XP_005257251.1:p.Val388GlyfsTer?
NM_000152.4:c.1163_1164del NP_000143.2:p.Val388GlyfsTer?
NM_001079803.2:c.1163_1164del NP_001073271.1:p.Val388GlyfsTer?
NM_001079804.2:c.1163_1164del NP_001073272.1:p.Val388GlyfsTer?
XM_005257193.2:c.1163_1164del XP_005257250.1:p.Val388GlyfsTer?
XM_005257194.4:c.1163_1164del XP_005257251.1:p.Val388GlyfsTer?
NM_000152.5:c.1163_1164del MANE Select NP_000143.2:p.Val388GlyfsTer?
NM_001079803.3:c.1163_1164del NP_001073271.1:p.Val388GlyfsTer?
NM_001079804.3:c.1163_1164del NP_001073272.1:p.Val388GlyfsTer?
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