Canonical Allele Identifier: CA502402648
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 556534
ClinVar RCV Id: RCV000672554
dbSNP Id: rs1555599644
MyVariant Identifiers: chr17:g.78081431_78081432insT (hg19) chr17:g.80107632dup (hg38)
ERepo: CA502402648/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80107632dup , CM000679.2:g.80107632dup GRCh38
NC_000017.10:g.78081431dup , CM000679.1:g.78081431dup GRCh37
NC_000017.9:g.75696026dup NCBI36
NG_009822.1:g.11077dup , LRG_673:g.11077dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.768dup ENSP00000460543.2:p.Ile257TyrfsTer?
ENST00000572080.2:c.768dup ENSP00000459972.2:p.Ile257TyrfsTer?
ENST00000577106.6:c.768dup ENSP00000458306.2:p.Ile257TyrfsTer?
ENST00000302262.8:c.768dup MANE Select ENSP00000305692.3:p.Ile257TyrfsTer?
ENST00000302262.7:c.768dup ENSP00000305692.3:p.Ile257TyrfsTer?
ENST00000390015.7:c.768dup ENSP00000374665.3:p.Ile257TyrfsTer?
ENST00000570803.5:c.768dup ENSP00000460543.1:p.Ile257TyrfsTer?
NM_000152.3:c.768dup , LRG_673t1:c.768dup NP_000143.2:p.Ile257TyrfsTer?
NM_001079803.1:c.768dup NP_001073271.1:p.Ile257TyrfsTer?
NM_001079804.1:c.768dup NP_001073272.1:p.Ile257TyrfsTer?
XM_005257193.1:c.768dup XP_005257250.1:p.Ile257TyrfsTer?
XM_005257194.3:c.768dup XP_005257251.1:p.Ile257TyrfsTer?
NM_000152.4:c.768dup NP_000143.2:p.Ile257TyrfsTer?
NM_001079803.2:c.768dup NP_001073271.1:p.Ile257TyrfsTer?
NM_001079804.2:c.768dup NP_001073272.1:p.Ile257TyrfsTer?
XM_005257193.2:c.768dup XP_005257250.1:p.Ile257TyrfsTer?
XM_005257194.4:c.768dup XP_005257251.1:p.Ile257TyrfsTer?
NM_000152.5:c.768dup MANE Select NP_000143.2:p.Ile257TyrfsTer?
NM_001079803.3:c.768dup NP_001073271.1:p.Ile257TyrfsTer?
NM_001079804.3:c.768dup NP_001073272.1:p.Ile257TyrfsTer?
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