Canonical Allele Identifier: CA628018684
Gene: GAA HGNC NCBI

Linked Data

gnomAD v2: 17-78092171-TGC-T
gnomAD v3: 17-80118372-TGC-T
gnomAD v4: 17-80118372-TGC-T
MyVariant Identifiers: chr17:g.78092172_78092173del (hg19) chr17:g.80118373_80118374del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118373_80118374del , CM000679.2:g.80118373_80118374del GRCh38
NC_000017.10:g.78092172_78092173del , CM000679.1:g.78092172_78092173del GRCh37
NC_000017.9:g.75706767_75706768del NCBI36
NG_009822.1:g.21818_21819del , LRG_673:g.21818_21819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2646+16_2646+17del ENSP00000460543.2:n.2646+16_2646+17del
ENST00000572080.2:c.*784+16_*784+17del ENSP00000459972.2:n.*784+16_*784+17del
ENST00000577106.6:c.2646+16_2646+17del ENSP00000458306.2:n.2646+16_2646+17del
ENST00000302262.8:c.2646+16_2646+17del MANE Select ENSP00000305692.3:n.2646+16_2646+17del
ENST00000302262.7:c.2646+16_2646+17del ENSP00000305692.3:n.2646+16_2646+17del
ENST00000390015.7:c.2646+16_2646+17del ENSP00000374665.3:n.2646+16_2646+17del
ENST00000573556.1:n.599+16_599+17del
NM_000152.3:c.2646+16_2646+17del , LRG_673t1:c.2646+16_2646+17del NP_000143.2:n.2646+16_2646+17del
NM_001079803.1:c.2646+16_2646+17del NP_001073271.1:n.2646+16_2646+17del
NM_001079804.1:c.2646+16_2646+17del NP_001073272.1:n.2646+16_2646+17del
XM_005257193.1:c.2646+16_2646+17del XP_005257250.1:n.2646+16_2646+17del
XM_005257194.3:c.2646+16_2646+17del XP_005257251.1:n.2646+16_2646+17del
NM_000152.4:c.2646+16_2646+17del NP_000143.2:n.2646+16_2646+17del
NM_001079803.2:c.2646+16_2646+17del NP_001073271.1:n.2646+16_2646+17del
NM_001079804.2:c.2646+16_2646+17del NP_001073272.1:n.2646+16_2646+17del
XM_005257193.2:c.2646+16_2646+17del XP_005257250.1:n.2646+16_2646+17del
XM_005257194.4:c.2646+16_2646+17del XP_005257251.1:n.2646+16_2646+17del
NM_000152.5:c.2646+16_2646+17del MANE Select NP_000143.2:n.2646+16_2646+17del
NM_001079803.3:c.2646+16_2646+17del NP_001073271.1:n.2646+16_2646+17del
NM_001079804.3:c.2646+16_2646+17del NP_001073272.1:n.2646+16_2646+17del
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