Canonical Allele Identifier: CA2277817997
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118375_80118379delinsTCAGG , CM000679.2:g.80118375_80118379delinsTCAGG GRCh38
NC_000017.10:g.78092174_78092178delinsTCAGG , CM000679.1:g.78092174_78092178delinsTCAGG GRCh37
NC_000017.9:g.75706769_75706773delinsTCAGG NCBI36
NG_009822.1:g.21820_21824delinsTCAGG , LRG_673:g.21820_21824delinsTCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2646+18_2646+22delinsTCAGG ENSP00000460543.2:n.2646+18_2646+22delinsTCAGG
ENST00000572080.2:c.*784+18_*784+22delinsTCAGG ENSP00000459972.2:n.*784+18_*784+22delinsTCAGG
ENST00000577106.6:c.2646+18_2646+22delinsTCAGG ENSP00000458306.2:n.2646+18_2646+22delinsTCAGG
ENST00000302262.8:c.2646+18_2646+22delinsTCAGG MANE Select ENSP00000305692.3:n.2646+18_2646+22delinsTCAGG
ENST00000302262.7:c.2646+18_2646+22delinsTCAGG ENSP00000305692.3:n.2646+18_2646+22delinsTCAGG
ENST00000390015.7:c.2646+18_2646+22delinsTCAGG ENSP00000374665.3:n.2646+18_2646+22delinsTCAGG
ENST00000573556.1:n.599+18_599+22delinsTCAGG
NM_000152.3:c.2646+18_2646+22delinsTCAGG , LRG_673t1:c.2646+18_2646+22delinsTCAGG NP_000143.2:n.2646+18_2646+22delinsTCAGG
NM_001079803.1:c.2646+18_2646+22delinsTCAGG NP_001073271.1:n.2646+18_2646+22delinsTCAGG
NM_001079804.1:c.2646+18_2646+22delinsTCAGG NP_001073272.1:n.2646+18_2646+22delinsTCAGG
XM_005257193.1:c.2646+18_2646+22delinsTCAGG XP_005257250.1:n.2646+18_2646+22delinsTCAGG
XM_005257194.3:c.2646+18_2646+22delinsTCAGG XP_005257251.1:n.2646+18_2646+22delinsTCAGG
NM_000152.4:c.2646+18_2646+22delinsTCAGG NP_000143.2:n.2646+18_2646+22delinsTCAGG
NM_001079803.2:c.2646+18_2646+22delinsTCAGG NP_001073271.1:n.2646+18_2646+22delinsTCAGG
NM_001079804.2:c.2646+18_2646+22delinsTCAGG NP_001073272.1:n.2646+18_2646+22delinsTCAGG
XM_005257193.2:c.2646+18_2646+22delinsTCAGG XP_005257250.1:n.2646+18_2646+22delinsTCAGG
XM_005257194.4:c.2646+18_2646+22delinsTCAGG XP_005257251.1:n.2646+18_2646+22delinsTCAGG
NM_000152.5:c.2646+18_2646+22delinsTCAGG MANE Select NP_000143.2:n.2646+18_2646+22delinsTCAGG
NM_001079803.3:c.2646+18_2646+22delinsTCAGG NP_001073271.1:n.2646+18_2646+22delinsTCAGG
NM_001079804.3:c.2646+18_2646+22delinsTCAGG NP_001073272.1:n.2646+18_2646+22delinsTCAGG
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