Canonical Allele Identifier: CA294897890
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs201773949
MyVariant Identifiers: chr17:g.78087646_78087647insG (hg19) chr17:g.80113847_80113848insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113847_80113848insG , CM000679.2:g.80113847_80113848insG GRCh38
NC_000017.10:g.78087646_78087647insG , CM000679.1:g.78087646_78087647insG GRCh37
NC_000017.9:g.75702241_75702242insG NCBI36
NG_009822.1:g.17292_17293insG , LRG_673:g.17292_17293insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2189+481_2189+482insG ENSP00000460543.2:n.2189+481_2189+482insG
ENST00000572080.2:c.*327+481_*327+482insG ENSP00000459972.2:n.*327+481_*327+482insG
ENST00000577106.6:c.2189+481_2189+482insG ENSP00000458306.2:n.2189+481_2189+482insG
ENST00000302262.8:c.2189+481_2189+482insG MANE Select ENSP00000305692.3:n.2189+481_2189+482insG
ENST00000302262.7:c.2189+481_2189+482insG ENSP00000305692.3:n.2189+481_2189+482insG
ENST00000390015.7:c.2189+481_2189+482insG ENSP00000374665.3:n.2189+481_2189+482insG
ENST00000572080.1:c.608+481_608+482insG
NM_000152.3:c.2189+481_2189+482insG , LRG_673t1:c.2189+481_2189+482insG NP_000143.2:n.2189+481_2189+482insG
NM_001079803.1:c.2189+481_2189+482insG NP_001073271.1:n.2189+481_2189+482insG
NM_001079804.1:c.2189+481_2189+482insG NP_001073272.1:n.2189+481_2189+482insG
XM_005257193.1:c.2189+481_2189+482insG XP_005257250.1:n.2189+481_2189+482insG
XM_005257194.3:c.2189+481_2189+482insG XP_005257251.1:n.2189+481_2189+482insG
NM_000152.4:c.2189+481_2189+482insG NP_000143.2:n.2189+481_2189+482insG
NM_001079803.2:c.2189+481_2189+482insG NP_001073271.1:n.2189+481_2189+482insG
NM_001079804.2:c.2189+481_2189+482insG NP_001073272.1:n.2189+481_2189+482insG
XM_005257193.2:c.2189+481_2189+482insG XP_005257250.1:n.2189+481_2189+482insG
XM_005257194.4:c.2189+481_2189+482insG XP_005257251.1:n.2189+481_2189+482insG
NM_000152.5:c.2189+481_2189+482insG MANE Select NP_000143.2:n.2189+481_2189+482insG
NM_001079803.3:c.2189+481_2189+482insG NP_001073271.1:n.2189+481_2189+482insG
NM_001079804.3:c.2189+481_2189+482insG NP_001073272.1:n.2189+481_2189+482insG
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